Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.G380V

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
11 papers
NM_000324.3
p.G380V
c.1139G>T
Surrounding Variants
2 papers
NM_000324.3
p.L383I
c.1147C>A
1 paper
NM_000324.3
p.G389R
c.1165G>C
1 paper
NM_000324.3
p.G389R
c.1165G>A
1 paper
NM_000324.3
p.D393E
c.1179C>A
1 paper
NM_000324.3
p.Q394R
c.1181A>G
1 paper
NM_000324.3
p.N395fs
c.1183_1184fs
3 papers
NM_000324.3
p.D399Y
c.1195G>T
1 paper
NM_000324.3
p.D399A
c.1196A>C
1 paper
NM_000324.3
p.V401V
c.1203T>A
1 paper
NM_000324.3
p.G380Splc
c.1138+3C>T
1 paper
NM_000324.3
p.G380Splc
c.1138+2T>A
1 paper
NM_000324.3
p.G380Splc
c.1138+1G>A
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