Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q196insFs

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
4 papers
NM_003172.4
p.Q196insFs
c.587_588ins4
Surrounding Variants
2 papers
NM_003172.4
p.Q196_I197insFs
c.588_589ins4
1 paper
NM_003172.4
p.Q196Q
c.588G>A
3 papers
NM_003172.4
p.Q196*
c.586C>T
1 paper
NM_003172.4
p.Q196_I197Splc
c.588+1G>C
7 papers
NM_003172.4
p.Q196_I197Splc
c.588+1G>A
1 paper
NM_003172.4
p.G195V
c.584G>T
1 paper
NM_003172.4
p.G195D
c.584G>A
1 paper
NM_003172.4
p.G195S
c.583G>A
1 paper
NM_003172.4
p.R192insFs
c.575_576ins4
9 papers
NM_003172.4
p.R192insFs
c.574_575ins4
4 papers
NM_003172.4
p.T191insFs
c.572_573ins4
4 papers
NM_003172.4
p.R192Q
c.575G>A
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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."