Transcript #00003496 (NM_032043.2, BRIP1 gene)

Transcript name BRCA1 interacting protein C-terminal helicase 1
Gene name BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
Chromosome 17
Transcript - NCBI ID NM_032043.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_114432.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1150 entries on 12 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
-/. - c.-205G>A r.(?) p.(=) -
?/. - c.-31+1G>A r.spl? p.? -
-/. - c.-31+12G>A r.(=) p.(=) -
-?/. - c.-30-3T>C r.spl? p.? -
-?/. - c.-30-3T>C r.spl? p.? -
-?/. - c.-26G>C r.(?) p.(=) -
?/. - c.1A>G r.? p.? -
?/. - c.1A>G r.? p.? -
?/. - c.10A>G r.(?) p.(Met4Val) -
?/. - c.10A>G r.(?) p.(Met4Val) -
?/. - c.15G>A r.(?) p.(Trp5*) -
?/. - c.19G>C r.(?) p.(Glu7Gln) -
+/. - c.24T>G r.(?) p.(Tyr8*) -
-?/. - c.36G>T r.(?) p.(Gly12=) -
?/. - c.36G>T r.(?) p.(Gly12=) -
-?/. - c.36G>T r.(?) p.(Gly12=) -
?/. - c.50T>G r.(?) p.(Phe17Cys) -
?/. - c.56A>G r.(?) p.(Tyr19Cys) -
?/. - c.57T>A r.(?) p.(Tyr19*) -
-/. - c.57T>C r.(=) p.(=) -
?/. - c.62C>T r.(?) p.(Ala21Val) -
?/. - c.64T>C r.(?) p.(Tyr22His) -
?/. - c.66C>G r.(?) p.(Tyr22*) -
?/. - c.71dup r.(?) p.(Gln25Thrfs*44) -
?/. - c.76C>G r.(?) p.(Leu26Val) -
?/. - c.78dup r.(?) p.(Ala27Cysfs*42) -
?/. - c.82A>C r.(?) p.(Met28Leu) -
?/. - c.87G>T r.(?) p.(Met29Ile) -
-/. - c.93+72T>G r.(=) p.(=) -
-/. - c.94-18T>G r.(=) p.(=) -
-/. - c.94-18T>G r.(=) p.(=) -
-/. - c.94-18T>G r.(=) p.(=) -
?/. - c.110A>G r.(?) p.(Asn37Ser) -
?/. - c.110A>G r.(?) p.(Asn37Ser) -
?/. - c.115A>G r.(?) p.(Lys39Glu) -
+/. - c.128_131del r.(?) p.(Leu43TrpfsTer11) -
?/. - c.133G>T r.(?) p.(Glu45*) -
?/. - c.139C>A r.(?) p.(Pro47Thr) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.139C>G r.(?) p.(Pro47Ala) -
?/. - c.152G>A r.(?) p.(Gly51Glu) -
?/. - c.155A>G r.(?) p.(Lys52Arg) -
?/. - c.169C>T r.(?) p.(Leu57Phe) -
-?/. - c.186A>G r.(?) p.(Ala62=) -
?/. - c.188G>C r.(?) p.(Trp63Ser) -
?/. - c.189G>T r.(?) p.(Trp63Cys) -
?/. - c.193C>T r.(?) p.(Gln65*) -
?/. - c.196delinsCTC r.(?) p.(Ser66Leufs*12) -
?/. - c.200T>C r.(?) p.(Leu67Pro) -
?/. - c.205G>A r.(?) p.(Gly69Arg) -
+/. 3i c.205+5G>T r.(spl?) p.(Gly69fs*8) FA
+/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA
+/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA
+/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA
-/. - c.206-21T>C r.(=) p.(=) -
+?/. - c.206-2A>G r.(?) p.(?) -
?/. - c.206-1G>T r.spl? p.? -
?/. - c.206-1G>T r.spl? p.? -
?/. - c.206G>C r.(?) p.(Gly69Ala) -
?/. - c.208A>T r.(?) p.(Lys70*) -
?/. - c.209A>G r.(?) p.(Lys70Arg) -
?/. - c.215C>T r.(?) p.(Ala72Val) -
?/. - c.218A>G r.(?) p.(Asp73Gly) -
-/. - c.225C>T r.(=) p.(=) -
?/. - c.235A>G r.(?) p.(Lys79Glu) -
?/. - c.243A>G r.(?) p.(Glu81=) -
?/. - c.254C>T r.(?) p.(Ser85Leu) -
-?/. - c.254C>T r.(?) p.(Ser85Leu) -
?/. - c.254C>T r.(?) p.(Ser85Leu) -
?/. - c.257G>A r.(?) p.(Cys86Tyr) -
?/. - c.259T>A r.(?) p.(Cys87Ser) -
?/. - c.260G>C r.(?) p.(Cys87Ser) -
?/. - c.262_264del r.(?) p.(Cys88del) -
?/. - c.270C>A r.(?) p.(Cys90*) -
?/. - c.274T>C r.(?) p.(Ser92Pro) -
?/. - c.277A>G r.(?) p.(Lys93Glu) -
?/. - c.290_293del r.(?) p.(Asn97Metfs*3) -
?/. - c.287C>T r.(?) p.(Thr96Ile) -
?/. - c.293A>G r.(?) p.(Asn98Ser) -
?/. - c.293A>G r.(?) p.(Asn98Ser) -
?/. - c.299T>C r.(?) p.(Met100Thr) -
?/. - c.299T>C r.(?) p.(Met100Thr) -
?/. - c.305A>G r.(?) p.(Gln102Arg) -
?/. - c.305A>G r.(?) p.(Gln102Arg) -
?/. - c.316C>T r.(?) p.(Arg106Cys) -
?/. - c.316C>T r.(?) p.(Arg106Cys) -
?/. - c.317G>A r.(?) p.(Arg106His) -
?/. - c.317G>A r.(?) p.(Arg106His) -
?/. - c.321_337del r.(?) p.(Phe108Thrfs*4) -
?/. - c.321_337del r.(?) p.(Phe108Thrfs*4) -
?/. - c.320A>C r.(?) p.(His107Pro) -
?/. - c.326A>G r.(?) p.(Asn109Ser) -
?/. - c.331C>G r.(?) p.(Pro111Ala) -
?/. - c.338C>T r.(?) p.(Thr113Ile) -
?/. - c.341C>A r.(?) p.(Pro114Gln) -
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