Varaico: Literature-Extracted Genetic Variants

Gene:RHPN2
Variant:p.L324L

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.L324L
c.972A>G
Surrounding Variants
1 paper
NM_033103.5
p.E335Fs
c.1003delinsGAFs
1 paper
NM_033103.5
p.A342P
c.1024G>C
1 paper
NM_033103.5
p.V347G
c.1040T>G
3 papers
NM_033103.5
p.H351Q
c.1053C>G
3 papers
NM_033103.5
p.H351Q
c.1053C>A
4 papers
NM_033103.5
p.A353T
c.1057G>A
3 papers
NM_033103.5
p.A353V
c.1058C>T
1 paper
NM_033103.5
p.A353delins
c.1057_1058delinsAT
5 papers
NM_033103.5
p.H357L
c.1070A>T
1 paper
NM_033103.5
p.L363L
c.1089C>G
1 paper
NM_033103.5
p.L276F
c.826C>T
2 papers
NM_033103.5
p.M275I
c.825G>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."