Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q196_I197Splc

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.Q196_I197Splc
c.589-1G>A
Surrounding Variants
2 papers
NM_003172.4
p.Q196_I197Splc
c.589-1G>T
3 papers
NM_003172.4
p.Q196_I197Splc
c.589-1G>C
2 papers
NM_003172.4
p.I197insFs
c.589_590ins4
1 paper
NM_003172.4
p.I197M
c.591T>G
1 paper
NM_003172.4
p.G199R
c.595G>C
1 paper
NM_003172.4
p.G199R
c.595G>A
2 papers
NM_003172.4
p.G199E
c.596G>A
3 papers
NM_003172.4
p.G199del1
c.595_596delTCC
1 paper
NM_003172.4
p.G199_E200delFs
c.595_598del4
19 papers
NM_003172.4
p.D202H
c.604G>C
3 papers
NM_003172.4
p.L203P
c.608T>C
5 papers
NM_003172.4
p.G205E
c.614G>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."