Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q63*

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.Q63*
c.187C>T
Surrounding Variants
3 papers
NM_003172.4
p.F61_L62delFs
c.183_186del4
1 paper
NM_003172.4
p.L62P
c.185T>C
1 paper
NM_003172.4
p.S60delFs
c.180delG
1 paper
NM_003172.4
p.D58H
c.172G>C
4 papers
NM_003172.4
p.E57delFs
c.169delC
1 paper
NM_003172.4
p.I69F
c.205A>T
2 papers
NM_003172.4
p.E57fs
c.169_170fs
4 papers
NM_003172.4
p.A56G
c.167C>G
1 paper
NM_003172.4
p.P70S
c.208C>T
1 paper
NM_003172.4
p.A53P
c.157G>C
1 paper
NM_003172.4
p.S52S
c.156T>C
1 paper
NM_003172.4
p.L76L
c.226T>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."