Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.S282delFs

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
42 papers
NM_003172.4
p.S282delFs
c.845_846delAG
Surrounding Variants
2 papers
NM_003172.4
p.S282fs
c.844_845fs
1 paper
NM_003172.4
p.A283E
c.848C>A
15 papers
NM_003172.4
p.S282fs
c.844_845fs
1 paper
NM_003172.4
p.A284D
c.851C>A
1 paper
NM_003172.4
p.L281P
c.842T>C
1 paper
NM_003172.4
p.L281V
c.841C>G
2 papers
NM_003172.4
p.L281_S282insG
c.841_845ins3
1 paper
NM_003172.4
p.S286P
c.856T>C
5 papers
NM_003172.4
p.W278*
c.834G>A
3 papers
NM_003172.4
p.W278*
c.833G>A
5 papers
NM_003172.4
p.W289*
c.866G>A
6 papers
NM_003172.4
p.W289*
c.867G>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."