Varaico: Literature-Extracted Genetic Variants

Gene:RHPN1
Variant:p.S102R

RHPN1

46 papers

Pfam Domains

HR1aa 36–96UCSCHr1 repeat
BRO1aa 109–510UCSCBRO1-like domain
PDZaa 513–590UCSCPDZ domain

Gene Aliases

HGNC Name

rhophilin Rho GTPase binding protein 1

HGNC Alias Symbols

KIAA1929; ODF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052924.3
p.S102R
c.304A>C
Surrounding Variants
1 paper
NM_052924.3
p.S102R
c.306C>A
1 paper
NM_052924.3
p.S102R
c.306C>G
1 paper
NM_052924.3
p.R99W
c.295C>T
1 paper
NM_052924.3
p.E90*
c.268G>T
1 paper
NM_052924.3
p.S79insFs
c.236_237insTG
1 paper
NM_052924.3
p.S102Splc
c.306-319C>T
1 paper
NM_052924.3
p.S102Splc
c.306-225C>T
1 paper
NM_052924.3
p.S102Splc
c.306-3C>T
1 paper
NM_052924.3
p.P125P
c.375G>A
1 paper
NM_052924.3
p.T52M
c.155C>T
1 paper
NM_052924.3
p.C30W
c.90C>G
1 paper
NM_052924.3
p.R156W
c.466C>T
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