Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.T169I

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.T169I
c.506C>T
Surrounding Variants
1 paper
NM_003172.4
p.D170N
c.508G>A
1 paper
NM_003172.4
p.L171L
c.511C>T
2 papers
NM_003172.4
p.G172Splc
c.515+2T>G
3 papers
NM_003172.4
p.G172Splc
c.515+2T>C
1 paper
NM_003172.4
p.G172Splc
c.515+5G>C
1 paper
NM_003172.4
p.T164I
c.491C>T
1 paper
NM_003172.4
p.V163G
c.488T>G
1 paper
NM_003172.4
p.V163F
c.487G>T
1 paper
NM_003172.4
p.A160A
c.480C>G
1 paper
NM_003172.4
p.G159R
c.475G>A
4 papers
NM_003172.4
p.S158delFs
c.472_473delCT
1 paper
NM_003172.4
p.T156_Q157delFs
c.468_469delGA
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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."