Varaico: Literature-Extracted Genetic Variants

Gene:TMEM97
Variant:p.Y167C

TMEM97

37 papers

RefSeq Summary

TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009].

Pfam Domains

EBPaa 42–161UCSCEXPERA (EXPanded EBP superfamily)

Gene Aliases

HGNC Name

transmembrane protein 97

HGNC Alias Symbols

MAC30; σ2R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014573.3
p.Y167C
c.500A>G
Surrounding Variants
1 paper
NM_014573.3
p.P165A
c.493C>G
1 paper
NM_014573.3
p.E170A
c.509A>C
1 paper
NM_014573.3
p.E171D
c.513G>C
1 paper
NM_014573.3
p.E171D
c.513G>T
1 paper
NM_014573.3
p.R173fs
c.517_518fs
1 paper
NM_014573.3
p.R173K
c.518G>A
1 paper
NM_014573.3
p.K176insFs
c.528dupA
3 papers
NM_014573.3
p.K176delFs
c.528delA
3 papers
NM_014573.3
p.K176fs
c.526_527fs
1 paper
NM_014573.3
p.K176I
c.527A>T
1 paper
NM_014573.3
p.*177fs
c.529_530fs
1 paper
NM_014573.3
p.F120del1
c.358_359delTTT
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