Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.R264_V265delFs

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
18 papers
NM_003172.4
p.R264_V265delFs
c.792_793delCT
Surrounding Variants
1 paper
NM_003172.4
p.T266insFs
c.796dupA
6 papers
NM_003172.4
p.R264fs
c.790_791fs
5 papers
NM_003172.4
p.L267insFs
c.800_801insT
3 papers
NM_003172.4
p.L267delFs
c.799_800delAG
1 paper
NM_003172.4
p.N269K
c.807C>G
1 paper
NM_003172.4
p.N269K
c.807C>A
4 papers
NM_003172.4
p.E270*
c.808G>T
1 paper
NM_003172.4
p.E270fs
c.808_809fs
1 paper
NM_003172.4
p.G260E
c.779G>A
1 paper
NM_003172.4
p.G260*
c.778G>T
1 paper
NM_003172.4
p.H271Q
c.813T>A
2 papers
NM_003172.4
p.E270_H271delFs
c.808_812del5
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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."