Varaico: Literature-Extracted Genetic Variants

Gene:RHAG

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
1–12 of 180 variants
20 papers
NM_000324.3
p.F65S
c.194T>C
16 papers
NM_000324.3
p.I61R
c.182T>G
16 papers
NM_000324.3
p.V270I
c.808G>A
12 papers
NM_000324.3
p.S79N
c.236G>A
11 papers
NM_000324.3
p.G380V
c.1139G>T
9 papers
NM_000324.3
p.G279E
c.836G>A
9 papers
NM_000324.3
p.G280R
c.838G>A
8 papers
NM_000324.3
p.G280R
c.838G>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
5 papers
NM_000324.3
p.K164Q
c.490A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."