Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.H271Q

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.H271Q
c.813T>A
Surrounding Variants
2 papers
NM_003172.4
p.E270_H271delFs
c.808_812del5
4 papers
NM_003172.4
p.L272delFs
c.814_815delAG
2 papers
NM_003172.4
p.Q273*
c.817C>T
4 papers
NM_003172.4
p.E270*
c.808G>T
1 paper
NM_003172.4
p.E270fs
c.808_809fs
1 paper
NM_001280787.1
p.H162_Q164ins1
c.486_491dup6
1 paper
NM_003172.4
p.N269K
c.807C>G
1 paper
NM_003172.4
p.N269K
c.807C>A
12 papers
NM_003172.4
p.Y274D
c.820T>G
8 papers
NM_003172.4
p.Y274C
c.821A>G
1 paper
NM_003172.4
p.Y274insFs
c.820dupT
1 paper
NM_003172.4
p.Y274insFs
c.821dupA
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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."