Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.P136S

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.P136S
c.406C>T
Surrounding Variants
1 paper
NM_003172.4
p.P136T
c.406C>A
1 paper
NM_003172.4
p.P136L
c.407C>T
2 papers
NM_003172.4
p.R137W
c.409C>T
1 paper
NM_003172.4
p.V140M
c.418G>A
1 paper
NM_003172.4
p.L132L
c.394C>T
1 paper
NM_003172.4
p.E131K
c.391G>A
1 paper
NM_003172.4
p.V140_D141insFs
c.420_421dupGG
1 paper
NM_003172.4
p.P142S
c.424C>T
2 papers
NM_003172.4
p.R144W
c.430C>T
1 paper
NM_003172.4
p.P142_V143delFs
c.425_428del4
1 paper
NM_003172.4
p.G124delFs
c.372delC
1 paper
NM_003172.4
p.R147Q
c.440G>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."