Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.R147Q

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.R147Q
c.440G>A
Surrounding Variants
1 paper
NM_003172.4
p.E148K
c.442G>A
2 papers
NM_003172.4
p.G149V
c.446G>T
2 papers
NM_003172.4
p.G150D
c.449G>A
2 papers
NM_003172.4
p.R144W
c.430C>T
1 paper
NM_003172.4
p.P142_V143delFs
c.425_428del4
1 paper
NM_003172.4
p.P142S
c.424C>T
1 paper
NM_003172.4
p.V140_D141insFs
c.420_421dupGG
1 paper
NM_003172.4
p.S154P
c.460T>C
1 paper
NM_003172.4
p.V140M
c.418G>A
1 paper
NM_003172.4
p.S155P
c.463T>C
1 paper
NM_003172.4
p.T156fs
c.466_467fs
2 papers
NM_003172.4
p.S155_T156delFs
c.465_466delTT
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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."