Varaico: Literature-Extracted Genetic Variants

Gene:RHBG
Variant:p.G315R

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
4 papers
NM_020407.5
p.G315R
c.943G>A
Surrounding Variants
4 papers
NM_020407.5
p.G315R
c.943G>C
1 paper
NM_020407.5
p.S318Y
c.953C>A
1 paper
NM_020407.5
p.M301I
c.903G>A
1 paper
NM_020407.5
p.M301I
c.903G>C
1 paper
NM_020407.5
p.M301I
c.903G>T
1 paper
NM_020407.5
p.H342D
c.1024C>G
1 paper
NM_020407.5
p.H342L
c.1025A>T
1 paper
NM_020407.5
p.P348L
c.1043C>T
1 paper
NM_020407.5
p.G349E
c.1046G>A
2 papers
NM_020407.5
p.A353insFs
c.1058dupC
3 papers
NM_020407.5
p.L355insFs
c.1064dupT
1 paper
NM_020407.5
p.G371Splc
c.1112+1G>A
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