Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.P104_D108delins

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
4 papers
NM_003172.4
p.P104_D108delins
c.312_322delinsAT
Surrounding Variants
3 papers
NM_003172.4
p.L105_A107del0
c.313_321del9
3 papers
NM_003172.4
p.P104_A107delFs
c.312_321del10
1 paper
NM_003172.4
p.A107A
c.321C>T
2 papers
NM_003172.4
p.A107Fs
c.321delinsATFs
20 papers
NM_003172.4
p.P104_A107Fs
c.312_321delinsATFs
1 paper
NM_003172.4
p.P104_A107delins
c.312_321delinsA
1 paper
NM_003172.4
p.P104_A107Fs
c.312_320delinsATFs
4 papers
NM_003172.4
p.D108Splc
c.323+2T>C
1 paper
NM_003172.4
p.P106P
c.318A>T
1 paper
NM_003172.4
p.P106S
c.316C>T
3 papers
NM_003172.4
p.L105fs
c.313_314fs
5 papers
NM_003172.4
p.P104_L105insFs
c.312_313insAT
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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."