Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.K186delFs

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.K186delFs
c.557delT
Surrounding Variants
1 paper
NM_003172.4
p.K186_V187delFs
c.556_559del4
3 papers
NM_003172.4
p.K185_K186delFs
c.555_556delTC
1 paper
NM_003172.4
p.K186*
c.556A>T
1 paper
NM_003172.4
p.K185insFs
c.554_555insA
1 paper
NM_003172.4
p.N188S
c.563A>G
3 papers
NM_003172.4
p.R184delFs
c.552delC
1 paper
NM_003172.4
p.R184delFs
c.550_551delCT
1 paper
NM_003172.4
p.R184K
c.551G>A
1 paper
NM_003172.4
p.R184delFs
c.550delT
1 paper
NM_003172.4
p.P183H
c.548C>A
2 papers
NM_003172.4
p.P183S
c.547C>T
1 paper
NM_003172.4
p.T191T
c.573C>T
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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."