Varaico: Literature-Extracted Genetic Variants

Gene:TMEM97
Variant:p.M1del1

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.M1del1
c.1_2delATG
Surrounding Variants
1 paper
NM_014573.3
p.M1V
c.1A>G
1 paper
NM_014573.3
p.M1I
c.3G>A
1 paper
NM_014573.3
p.M1I
c.3G>C
1 paper
NM_014573.3
p.M1I
c.3G>T
1 paper
NM_014573.3
p.W12*
c.35G>A
1 paper
NM_014573.3
p.W12L
c.35G>T
1 paper
NM_014573.3
p.L14M
c.40C>A
1 paper
NM_014573.3
p.I24S
c.71T>G
1 paper
NM_014573.3
p.M28I
c.84G>A
1 paper
NM_014573.3
p.M28I
c.84G>C
1 paper
NM_014573.3
p.M28I
c.84G>T
1 paper
NM_014573.3
p.A32V
c.95C>T
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