Varaico: Literature-Extracted Genetic Variants

Gene:RXFP4
Variant:p.R246H

RXFP4

31 papers

RefSeq Summary

GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008].

Pfam Domains

7tm_1aa 56–309UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

relaxin family peptide/INSL5 receptor 4

HGNC Previous Symbols

GPR100; RLN3R2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181885.3
p.R246H
c.737G>A
Surrounding Variants
1 paper
NM_181885.3
p.V248F
c.742G>T
1 paper
NM_181885.3
p.R249H
c.746G>A
1 paper
NM_181885.3
p.Q239P
c.716A>C
1 paper
NM_181885.3
p.R237W
c.709C>T
1 paper
NM_181885.3
p.H263D
c.787C>G
1 paper
NM_181885.3
p.V265V
c.795C>T
1 paper
NM_181885.3
p.V270_V277delFs
c.809_831del23
1 paper
NM_181885.3
p.V272L
c.814G>C
1 paper
NM_181885.3
p.V272L
c.814G>T
1 paper
NM_181885.3
p.W279*
c.836G>A
1 paper
NM_181885.3
p.W279*
c.837G>A
1 paper
NM_181885.3
p.R208K
c.623G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."