Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Y274D

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
12 papers
NM_003172.4
p.Y274D
c.820T>G
Surrounding Variants
1 paper
NM_001280787.1
p.H162_Q164ins1
c.486_491dup6
8 papers
NM_003172.4
p.Y274C
c.821A>G
1 paper
NM_003172.4
p.Y274insFs
c.820dupT
1 paper
NM_003172.4
p.Y274insFs
c.821dupA
2 papers
NM_003172.4
p.Q273*
c.817C>T
1 paper
NM_003172.4
p.N269_Y274ins2
c.806_820dup15
4 papers
NM_003172.4
p.L272delFs
c.814_815delAG
1 paper
NM_003172.4
p.Y274_I275insFs
c.820_824dup5
1 paper
NM_003172.4
p.V276ins6
c.826_827ins18
2 papers
NM_003172.4
p.V276_T277ins6
c.826_830ins18
2 papers
NM_003172.4
p.V276fs
c.826_827fs
1 paper
NM_003172.4
p.E270_V276ins2
c.809_826dup18
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