Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.P41S

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.P41S
c.121C>T
Surrounding Variants
1 paper
NM_003172.4
p.G36_R40delFs
c.107_119del13
1 paper
NM_003172.4
p.R40R
c.120G>A
2 papers
NM_003172.4
p.A38A
c.114C>G
1 paper
NM_003172.4
p.R43fs
c.127_128fs
1 paper
NM_003172.4
p.G45S
c.133G>A
1 paper
NM_003172.4
p.V37M
c.109G>A
4 papers
NM_003172.4
p.G36Splc
c.107-2A>G
1 paper
NM_003172.4
p.S52S
c.156T>C
1 paper
NM_003172.4
p.A53P
c.157G>C
4 papers
NM_003172.4
p.A56G
c.167C>G
2 papers
NM_003172.4
p.E57fs
c.169_170fs
4 papers
NM_003172.4
p.E57delFs
c.169delC
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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."