Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q251delFs

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
2 papers
NM_003172.4
p.Q251delFs
c.751delG
Surrounding Variants
10 papers
NM_003172.4
p.Q251Splc
c.751+1G>A
14 papers
NM_003172.4
p.Q251*
c.751C>T
1 paper
NM_003172.4
p.F250L
c.750C>G
1 paper
NM_003172.4
p.F250L
c.750C>A
1 paper
NM_003172.4
p.F250L
c.748T>C
2 papers
NM_003172.4
p.Q251Splc
c.751+5G>A
3 papers
NM_003172.4
p.Q251Splc
c.751+6T>G
3 papers
NM_003172.4
p.Q251Splc
c.751+6T>C
3 papers
NM_003172.4
p.N249D
c.745A>G
8 papers
NM_003172.4
p.A248D
c.743C>A
2 papers
NM_003172.4
p.D247_A248ins4
c.739_743ins12
10 papers
NM_003172.4
p.I246T
c.737T>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."