Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.P293S

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.P293S
c.877C>T
Surrounding Variants
1 paper
NM_000324.3
p.A290T
c.868G>A
1 paper
NM_000324.3
p.S296F
c.887C>T
1 paper
NM_000324.3
p.A287A
c.861G>A
1 paper
NM_000324.3
p.I298M
c.894T>G
1 paper
NM_000324.3
p.A287E
c.860C>A
1 paper
NM_000324.3
p.I299T
c.896T>C
1 paper
NM_000324.3
p.A303T
c.907G>A
8 papers
NM_000324.3
p.G280R
c.838G>C
9 papers
NM_000324.3
p.G280R
c.838G>A
1 paper
NM_000324.3
p.V306I
c.916G>A
9 papers
NM_000324.3
p.G279E
c.836G>A
1 paper
NM_000324.3
p.S307F
c.920C>T
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