Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.M235V

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.M235V
c.703A>G
Surrounding Variants
8 papers
NM_003172.4
p.M235T
c.704T>C
3 papers
NM_003172.4
p.N225_D231del0
c.675_692del18
1 paper
NM_003172.4
p.L232L
c.694C>T
1 paper
NM_003172.4
p.W227_R230del4
c.679_689del12
1 paper
NM_003172.4
p.R230L
c.689G>T
1 paper
NM_003172.4
p.H228_R230delFs
c.682_688del7
21 papers
NM_003172.4
p.R230*
c.688C>T
2 papers
NM_003172.4
p.H228Q
c.684T>G
2 papers
NM_003172.4
p.H228Q
c.684T>A
1 paper
NM_003172.4
p.H228fs
c.682_683fs
1 paper
NM_001280787.1
p.W118*
c.354G>A
2 papers
NM_003172.4
p.W227R
c.679T>C
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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."