Varaico: Literature-Extracted Genetic Variants

Gene:RHPN2
Variant:p.Q384R

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
9 papers
NM_033103.5
p.Q384R
c.1151A>G
Surrounding Variants
6 papers
NM_033103.5
p.L385I
c.1153C>A
1 paper
NM_033103.5
p.E379D
c.1137G>T
1 paper
NM_033103.5
p.E379D
c.1137G>C
11 papers
NM_033103.5
p.Q378*
c.1132C>T
1 paper
NM_033103.5
p.N401D
c.1201A>G
14 papers
NM_033103.5
p.R406Q
c.1217G>A
3 papers
NM_033103.5
p.G409Splc
c.1225+5G>A
1 paper
NM_033103.5
p.L363L
c.1089C>G
5 papers
NM_033103.5
p.H357L
c.1070A>T
3 papers
NM_033103.5
p.A353V
c.1058C>T
1 paper
NM_033103.5
p.A353delins
c.1057_1058delinsAT
4 papers
NM_033103.5
p.A353T
c.1057G>A
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