Varaico: Literature-Extracted Genetic Variants

Gene:RHBG
Variant:p.V143D

RHBG

85 papers

RefSeq Summary

This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammoni...

Pfam Domains

Ammonium_transpaa 25–429UCSCAmmonium Transporter Family

Gene Aliases

HGNC Name

Rh family B glycoprotein

HGNC Alias Symbol

SLC42A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_020407.5
p.V143D
c.428T>A
Surrounding Variants
1 paper
NM_020407.5
p.V143G
c.428T>G
1 paper
NM_020407.5
p.L144R
c.431T>G
1 paper
NM_020407.5
p.A133V
c.398C>T
1 paper
NM_020407.5
p.L157L
c.469C>T
1 paper
NM_020407.5
p.A129A
c.387T>A
1 paper
NM_020407.5
p.A129_D130insA
c.385_389ins3
2 papers
NM_020407.5
p.L174R
c.521T>G
1 paper
NM_020407.5
p.K209R
c.626A>G
1 paper
NM_020407.5
p.V215_H217insFs
c.643_649dup7
1 paper
NM_020407.5
p.H120Y
c.358C>T
2 papers
NM_020407.5
p.G117C
c.349G>T
1 paper
NM_020407.5
p.A97V
c.290C>T
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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."