Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
1 paper
NM_000324.3
p.M1L
c.1A>C
5 papers
NM_000324.3
p.M1I
c.3G>T
5 papers
NM_000324.3
p.M1I
c.3G>C
5 papers
NM_000324.3
p.M1I
c.3G>A
1 paper
NM_000324.3
p.M1del1
c.1_3delCAT
1 paper
NM_000324.3
p.T4delFs
c.12delT
1 paper
NM_000324.3
p.F5fs
c.13_14fs
1 paper
NM_000324.3
p.A9S
c.25G>T
1 paper
NM_000324.3
p.V11A
c.32T>C
2 papers
NM_000324.3
p.M16I
c.48G>C
1 paper
NM_000324.3
p.G21V
c.62G>T
1 paper
NM_000324.3
p.F23L
c.67T>C
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