Varaico: Literature-Extracted Genetic Variants

Gene:TM2D3
Variant:p.S148C

TM2D3

23 papers

RefSeq Summary

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similar...

Pfam Domains

TM2aa 182–231UCSCTM2 domain

Gene Aliases

HGNC Name

TM2 domain containing 3

HGNC Alias Symbols

BLP2; FLJ22604

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_078474.3
p.S148C
c.443C>G
Surrounding Variants
1 paper
NM_078474.3
p.T146M
c.437C>T
5 papers
NM_078474.3
p.P155L
c.464C>T
1 paper
NM_078474.3
p.Q111E
c.331C>G
1 paper
NM_078474.3
p.G168D
c.503G>A
1 paper
NM_078474.3
p.P173L
c.518C>T
1 paper
NM_078474.3
p.V109_D110Splc
c.327+1548G>A
1 paper
NM_078474.3
p.T107insFs
c.319dupA
2 papers
NM_078474.3
p.P69L
c.206C>T
1 paper
NM_078474.3
p.W209*
c.626G>A
1 paper
NM_078474.3
p.W209*
c.627G>A
2 papers
NM_078474.3
p.T226M
c.677C>T
1 paper
NM_078474.3
p.V230I
c.688G>A
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