Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.T136M

RHAG

154 papers

RefSeq Summary

The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein...

Pfam Domains

Ammonium_transpaa 15–402UCSCAmmonium Transporter Family

Gene Aliases

HGNC Name

Rh associated glycoprotein

HGNC Alias Symbols

RH50A; CD241; SLC42A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000324.3
p.T136M
c.407C>T
Surrounding Variants
1 paper
NM_000324.3
p.T136insFs
c.406dupA
1 paper
NM_000324.3
p.P138T
c.412C>A
1 paper
NM_000324.3
p.G134E
c.401G>A
1 paper
NM_000324.3
p.L133R
c.398T>G
1 paper
NM_000324.3
p.L133V
c.397C>G
1 paper
NM_000324.3
p.Q140R
c.419A>G
1 paper
NM_000324.3
p.Q140P
c.419A>C
1 paper
NM_000324.3
p.A131G
c.392C>G
1 paper
NM_000324.3
p.F129L
c.385T>C
1 paper
NM_000324.3
p.L126L
c.376C>T
2 papers
NM_000324.3
p.L126M
c.376C>A
1 paper
NM_000324.3
p.I149M
c.447T>G
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