Varaico: Literature-Extracted Genetic Variants

Gene:RHPN2
Variant:p.K118M

RHPN2

121 papers

RefSeq Summary

This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the...

Pfam Domains

HR1aa 39–102UCSCHr1 repeat
BRO1aa 112–516UCSCBRO1-like domain

Gene Aliases

HGNC Name

rhophilin Rho GTPase binding protein 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_033103.5
p.K118M
c.353A>T
Surrounding Variants
1 paper
NM_033103.5
p.V100I
c.298G>A
1 paper
NM_033103.5
p.G99V
c.296G>T
1 paper
NM_033103.5
p.E90E
c.270G>A
1 paper
NM_033103.5
p.R74L
c.221G>T
11 papers
NM_033103.5
p.V73M
c.217G>A
6 papers
NM_033103.5
p.R70Q
c.209G>A
1 paper
NM_033103.5
p.V69V
c.207G>T
3 papers
NM_033103.5
p.S67P
c.199T>C
1 paper
NM_033103.5
p.T65I
c.194C>T
1 paper
NM_033103.5
p.I133M
c.399C>G
1 paper
NM_033103.5
p.R163W
c.487C>T
1 paper
NM_033103.5
p.A166A
c.498C>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."