Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.G124R

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.G124R
c.370G>A
Surrounding Variants
11 papers
NM_003172.4
p.G124R
c.370G>C
11 papers
NM_003172.4
p.G124E
c.371G>A
7 papers
NM_003172.4
p.R123delFs
c.367_368delCT
1 paper
NM_003172.4
p.G124G
c.372G>A
1 paper
NM_003172.4
p.R123delFs
c.367delT
1 paper
NM_003172.4
p.G124delFs
c.372delC
4 papers
NM_003172.4
p.R123fs
c.367_368fs
3 papers
NM_003172.4
p.P119L
c.356C>T
1 paper
NM_003172.4
p.P119R
c.356C>G
1 paper
NM_003172.4
p.P119S
c.355C>T
1 paper
NM_003172.4
p.R118insFs
c.354dupG
1 paper
NM_003172.4
p.P119fs
c.355_356fs
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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."