Transcript #00018791 (NM_003018.3, SFTPC gene)

Transcript name transcript variant 1
Gene name SFTPC (surfactant protein C)
Chromosome 8
Transcript - NCBI ID NM_003018.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003009.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.(?) p.?
?/. - c.-7652C>G r.(?) p.(=)
?/. - c.-6391C>G r.(?) p.(=)
?/. - c.-5442G>C r.(?) p.(=)
+/. 2 c.88C>T r.(?) p.(Pro30Leu)
?/? 2 c.178A>G r.(?) p.(Met60Val)
?/? 2 c.180G>A r.(?) p.(Met60Ile)
+/. 2 c.196G>A r.(?) p.(Glu66Lys)
+?/+? 3 c.211A>G r.(?) p.(Met71Val)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/. 3 c.218T>C r.(?) p.(Ile73Thr)
+/. 3 c.218T>C r.(?) p.(Ile73Thr)
+/. 3 c.218T>C r.(?) p.(Ile73Thr)
+/. 3 c.218T>C r.(?) p.(Ile73Thr)
+/. 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/+ 3 c.218T>C r.(?) p.(Ile73Thr)
+/. 4 c.228T>C r.(?) p.(Ile73Thr)
-?/. - c.288C>T r.(?) p.(Ile96=)
?/? 3 c.298G>A r.(?) p.(Gly100Ser)
?/? 3 c.298G>A r.(?) p.(Gly100Ser)
?/? 3 c.298G>A r.(?) p.(Gly100Ser)
+/. 4 c.299G>T r.(?) p.(Gly100Val)
?/? 3 c.304G>A r.(?) p.(Val102Met)
+/. 3 c.304G>A r.(?) p.(Val102Met)
+/. 4 c.310T>C r.(?) p.(Tyr104His)
?/? 4 c.329T>G r.(?) p.(Leu110Arg)
?/? 4 c.334G>A r.(?) p.(Ala112Thr)
?/? 4 c.338A>G r.(?) p.(Tyr113Cys)
?/? 4 c.338A>G r.(?) p.(Tyr113Cys)
+/. 4 c.344C>T r.(?) p.(Pro115Leu)
+/. 5 c.377T>G r.(?) p.(Ile126Arg)
+?/+? 4 c.397A>C r.(?) p.(Ser133Arg)
?/? 4 c.410T>C r.(?) p.(Leu137Pro)
-/. - c.413C>A r.(?) p.(Thr138Asn)
+/. 4 c.435G>A r.(325_435del) p.(Leu109_Gln145del)
+/. 4 c.435G>A r.325_435del p.Leu109_Gln145del
+/. 4 c.435G>C r.325_435del p.Leu109_Gln145del
+/. 4i c.435+1G>A r.325_435del p.Leu109_Gln145del
+/. 4i c.435+1G>A r.325_435del p.Leu109_Gln145del
+/. 5i c.435+1G>T r.spl p.?
+/+ - c.435+2T>C r.spl? p.?
?/. 5 c.463G>C r.(?) p.(Ala155Pro)
?/. - c.487C>T r.(?) p.(Gln163Ter)
?/. 5 c.518C>A r.(?) p.(Pro173His)
?/. - c.541C>G r.(?) p.(Leu181Val)
-/. - c.557G>A r.(?) p.(Ser186Asn)
+/. 6 c.560C>A r.(?) p.(Thr187Asn)
+/+ 5 c.563T>A r.(?) p.(Leu188Gln)
+/. 6 c.563T>G r.(?) p.(Leu188Arg)
?/? 5 c.566G>A r.(?) p.(Cys189Tyr)
+?/+? 5 c.581T>C r.(?) p.(Leu194Pro)
-/. - c.*123G>A r.(=) p.(=)
-/. - c.*174G>A r.(=) p.(=)
-?/. - c.*1164C>A r.(=) p.(=)
?/. - c.*1276C>G r.(=) p.(=)
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