Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.E211fs

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.E211fs
c.631_632fs
Surrounding Variants
1 paper
NM_003172.4
p.E211K
c.631G>A
1 paper
NM_003172.4
p.E211G
c.632A>G
1 paper
NM_003172.4
p.E211delFs
c.631_632delTC
1 paper
NM_003172.4
p.T212S
c.634A>T
1 paper
NM_003172.4
p.T212fs
c.634_635fs
1 paper
NM_003172.4
p.T212delFs
c.636delG
5 papers
NM_003172.4
p.R208delFs
c.622delT
3 papers
NM_003172.4
p.Q214*
c.640C>T
3 papers
NM_003172.4
p.M206I
c.618G>C
5 papers
NM_003172.4
p.G205E
c.614G>A
1 paper
NM_003172.4
p.P218fs
c.652_653fs
3 papers
NM_003172.4
p.L203P
c.608T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."