Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.Q104*

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.Q104*
c.310C>T
Surrounding Variants
1 paper
NM_000324.3
p.S103N
c.308G>A
3 papers
NM_000324.3
p.Q106E
c.316C>G
1 paper
NM_000324.3
p.N109K
c.327C>G
1 paper
NM_000324.3
p.N109K
c.327C>A
1 paper
NM_000324.3
p.I110ins2
c.328_329ins6
1 paper
NM_000324.3
p.I110fs
c.328_329fs
1 paper
NM_000324.3
p.I110_G111delFs
c.329_332del4
1 paper
NM_000324.3
p.I112fs
c.334_335fs
1 paper
NM_000324.3
p.I112delFs
c.335_336delGA
1 paper
NM_000324.3
p.G90V
c.269G>T
1 paper
NM_000324.3
p.A87delFs
c.261delA
1 paper
NM_000324.3
p.V86I
c.256G>A
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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."