Transcript #00003477 (NM_152743.3, BRAT1 gene)

Transcript name BRCA1-associated ATM activator 1
Gene name BRAT1 (BRCA1-associated ATM activator 1)
Chromosome 7
Transcript - NCBI ID NM_152743.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689956.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.128-10A>G r.(=) p.(=)
-/. - c.128-10A>G r.(=) p.(=)
-?/. - c.189G>A r.(?) p.(Leu63=)
-?/. - c.282+9G>A r.(=) p.(=)
?/. - c.283-2A>T r.spl? p.?
-?/. - c.345C>T r.(?) p.(Ala115=)
?/. - c.355G>A r.(?) p.(Val119Met)
-?/. - c.431G>A r.(?) p.(Gly144Asp)
?/. - c.560C>G r.(?) p.(Pro187Arg)
-?/. - c.576C>T r.(?) p.(Pro192=)
+/. - c.638dup r.(?) p.(Val214GlyfsTer189)
+?/. - c.638dup r.(?) p.(Val214GlyfsTer189)
+/. 5 c.638dup r.(?) p.(Val214Glyfs*189)
+/. 5 c.638dup r.(?) p.(Val214Glyfs*189)
+/. - c.638dup r.(?) p.(Val214GlyfsTer189)
+/. - c.638dup r.(?) p.(Val214Glyfs*189)
+/. - c.638dup r.(?) p.(Val214Glyfs*189)
+?/. - c.638dup r.(?) p.(Val214GlyfsTer189)
+/. - c.638dup r.(?) p.(Val214GlyfsTer189)
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189)
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189)
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189)
-/. - c.675C>T r.(?) p.(Phe225=)
-?/. - c.762C>T r.(?) p.(Pro254=)
+?/. - c.803+1G>C r.spl p.?
-?/. - c.804-17C>A r.(=) p.(=)
-?/. - c.825C>T r.(?) p.(Ser275=)
-?/. - c.852G>A r.(?) p.(Ala284=)
-?/. - c.866G>C r.(?) p.(Cys289Ser)
-?/. - c.883A>G r.(?) p.(Met295Val)
-?/. - c.962T>G r.(?) p.(Leu321Arg)
-?/. - c.962T>G r.(?) p.(Leu321Arg)
-?/. - c.962T>G r.(?) p.(Leu321Arg)
-?/. - c.1134+14G>A r.(=) p.(=)
-?/. - c.1158C>T r.(?) p.(Pro386=)
?/. - c.1280G>A r.(?) p.(Arg427Gln)
+/. - c.1313_1314del r.(?) p.(Gln438ArgfsTer51)
+/. 10 c.1395G>A r.(1323_1396del) p.(Pro442Serfs*23)
+/. 10 c.1395G>A r.(1323_1396del) p.(Pro442Serfs*23)
+?/. - c.1395G>A r.spl? p.?
?/. - c.1395+4C>T r.spl? p.?
?/. - c.1423C>T r.(?) p.(Leu475Phe)
+/. - c.1446del r.(?) p.(Lys483Argfs*34)
-?/. - c.1455C>T r.(?) p.(Pro485=)
?/. - c.1550G>A r.(?) p.(Arg517Lys)
-?/. - c.1659C>T r.(?) p.(Leu553=)
-?/. - c.1668C>T r.(?) p.(Asp556=)
-/. - c.1726G>A r.(?) p.(Gly576Ser)
-/. - c.1726G>A r.(?) p.(Gly576Ser)
?/. - c.1736C>T r.(?) p.(Ala579Val)
+/. - c.1771-170_1771-169del r.(=) p.(=)
-?/. - c.1862G>A r.(?) p.(Arg621Gln)
+?/. - c.1913_1914del r.(?) p.(Val638Alafs*64)
-?/. - c.1922C>T r.(?) p.(Ala641Val)
?/. - c.1922C>T r.(?) p.(Ala641Val)
-/. - c.1932A>G r.(?) p.(Arg644=)
-/. - c.1932A>G r.(?) p.(Arg644=)
?/. - c.1972G>A r.(?) p.(Ala658Thr)
+/. - c.2125_2128del r.(?) p.(Phe709Thrfs*17)
?/. - c.2147C>T r.(?) p.(Ala716Val)
-?/. - c.2169T>A r.(?) p.(Leu723=)
-?/. - c.2208G>T r.(?) p.(Leu736=)
-?/. - c.2208G>T r.(?) p.(Leu736=)
?/. - c.2228C>A r.(?) p.(Pro743His)
-/. - c.2388A>G r.(?) p.(Glu796=)
-/. - c.2388A>G r.(?) p.(Glu796=)
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