Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.*301delFs

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
1 paper
NM_003172.4
p.*301delFs
c.901_902delCA
Surrounding Variants
1 paper
NM_003172.4
p.V300_*301delFs
c.899_902del4
4 papers
NM_003172.4
p.P298L
c.893C>T
1 paper
NM_003172.4
p.P298A
c.892C>G
1 paper
NM_003172.4
p.T297T
c.891A>C
1 paper
NM_003172.4
p.R295C
c.883C>T
2 papers
NM_003172.4
p.L294_R295insFs
c.882_883insT
1 paper
NM_003172.4
p.F293_L294Fs
c.878_880delinsGTAGFs
1 paper
NM_003172.4
p.K292E
c.874A>G
7 papers
NM_003172.4
p.K291*
c.871A>T
1 paper
NM_003172.4
p.K291E
c.871A>G
15 papers
NM_003172.4
p.K291insFs
c.871_872insT
3 papers
NM_003172.4
p.F290delFs
c.870delA
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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."