Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.P258S

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
2 papers
NM_003172.4
p.P258S
c.772C>T
Surrounding Variants
1 paper
NM_003172.4
p.G257V
c.770G>T
1 paper
NM_003172.4
p.G257E
c.770G>A
9 papers
NM_003172.4
p.G257R
c.769G>C
11 papers
NM_003172.4
p.G257R
c.769G>A
5 papers
NM_003172.4
p.P258delFs
c.772_773delGG
1 paper
NM_003172.4
p.G260*
c.778G>T
1 paper
NM_003172.4
p.G260E
c.779G>A
1 paper
NM_003172.4
p.P255S
c.763C>T
7 papers
NM_003172.4
p.S252_T253delFs
c.756_757delTG
1 paper
NM_003172.4
p.T253fs
c.757_758fs
1 paper
NM_003172.4
p.T253fs
c.757_758fs
5 papers
NM_003172.4
p.S252delFs
c.754_755delCT
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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."