Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.K291insFs

SURF1

286 papers

RefSeq Summary

This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family,...

Pfam Domains

SURF1aa 67–283UCSCSURF1 family

Gene Aliases

HGNC Name

SURF1 cytochrome c oxidase assembly factor

HGNC Alias Symbol

SHY1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_003172.4
p.K291insFs
c.871_872insT
Surrounding Variants
7 papers
NM_003172.4
p.K291*
c.871A>T
1 paper
NM_003172.4
p.K291E
c.871A>G
3 papers
NM_003172.4
p.F290delFs
c.870delA
1 paper
NM_003172.4
p.F290fs
c.868_869fs
1 paper
NM_003172.4
p.F290_K291insFs
c.870_871insA
1 paper
NM_003172.4
p.K292E
c.874A>G
6 papers
NM_003172.4
p.W289*
c.867G>A
5 papers
NM_003172.4
p.W289*
c.866G>A
1 paper
NM_003172.4
p.F293_L294Fs
c.878_880delinsGTAGFs
2 papers
NM_003172.4
p.L294_R295insFs
c.882_883insT
1 paper
NM_003172.4
p.R295C
c.883C>T
1 paper
NM_003172.4
p.S286P
c.856T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."