Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.M110_E111delFs

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.M110_E111delFs
c.330_331delCC
Surrounding Variants
1 paper
NM_003172.4
p.M110K
c.329T>A
1 paper
NM_003172.4
p.P109_M110insFs
c.327_328insAT
1 paper
NM_003172.4
p.D108N
c.322G>A
1 paper
NM_003172.4
p.D108Splc
c.324-2A>G
2 papers
NM_003172.4
p.Y117S
c.350A>C
7 papers
NM_003172.4
p.D108Splc
c.324-11T>G
1 paper
NM_003172.4
p.Y117*
c.351T>G
1 paper
NM_003172.4
p.R118W
c.352A>T
1 paper
NM_003172.4
p.R118G
c.352A>G
1 paper
NM_003172.4
p.P119S
c.355C>T
1 paper
NM_003172.4
p.R118insFs
c.354dupG
1 paper
NM_003172.4
p.P119fs
c.355_356fs
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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."