Varaico: Literature-Extracted Genetic Variants

Gene:RHBG
Variant:p.H428R

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.H428R
c.1283A>G
Surrounding Variants
2 papers
NM_020407.5
p.D431N
c.1291G>A
2 papers
NM_020407.5
p.D425fs
c.1273_1274fs
3 papers
NM_020407.5
p.D425fs
c.1273_1274fs
1 paper
NM_020407.5
p.P424fs
c.1270_1271fs
1 paper
NM_020407.5
p.P423fs
c.1267_1268fs
6 papers
NM_020407.5
p.S422insFs
c.1265dupC
2 papers
NM_020407.5
p.S422fs
c.1264_1265fs
2 papers
NM_020407.5
p.S422delFs
c.1265delC
1 paper
NM_020407.5
p.G412Splc
c.1235-3C>T
1 paper
NM_020407.5
p.V451M
c.1351G>A
1 paper
NM_020407.5
p.G407C
c.1219G>T
1 paper
NM_020407.5
p.A390A
c.1170C>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."