Varaico: Literature-Extracted Genetic Variants

Gene:RHPN2
Variant:p.K216R

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
1 paper
NM_033103.5
p.K216R
c.647A>G
Surrounding Variants
1 paper
NM_033103.5
p.R236W
c.706C>T
1 paper
NM_033103.5
p.R236Q
c.707G>A
1 paper
NM_033103.5
p.R190W
c.568C>T
1 paper
NM_033103.5
p.A166A
c.498C>T
1 paper
NM_033103.5
p.R163W
c.487C>T
1 paper
NM_033103.5
p.I133M
c.399C>G
1 paper
NM_033103.5
p.D270insFs
c.810dupC
2 papers
NM_033103.5
p.M275I
c.825G>T
2 papers
NM_033103.5
p.M275I
c.825G>C
2 papers
NM_033103.5
p.M275I
c.825G>A
1 paper
NM_033103.5
p.L276F
c.826C>T
1 paper
NM_033103.5
p.L324L
c.972A>G
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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."