Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.T356Splc

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.T356Splc
c.1068-90A>C
Surrounding Variants
1 paper
NM_000324.3
p.T356Splc
c.1068-2A>G
1 paper
NM_000324.3
p.M358V
c.1072A>G
1 paper
NM_000324.3
p.A362T
c.1084G>A
1 paper
NM_000324.3
p.L365R
c.1094T>G
1 paper
NM_000324.3
p.S368F
c.1103C>T
2 papers
NM_000324.3
p.I369V
c.1105A>G
2 papers
NM_000324.3
p.G370R
c.1108G>C
2 papers
NM_000324.3
p.G370R
c.1108G>A
1 paper
NM_000324.3
p.T379I
c.1136C>T
1 paper
NM_000324.3
p.G380Splc
c.1138+1G>A
1 paper
NM_000324.3
p.G380Splc
c.1138+2T>A
1 paper
NM_000324.3
p.G380Splc
c.1138+3C>T
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