Varaico: Literature-Extracted Genetic Variants

Gene:RHPN1
Variant:p.R156W

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.R156W
c.466C>T
Surrounding Variants
1 paper
NM_052924.3
p.P185S
c.553C>T
1 paper
NM_052924.3
p.Q206*
c.616C>T
1 paper
NM_052924.3
p.A245S
c.733G>T
1 paper
NM_052924.3
p.L273V
c.817C>G
1 paper
NM_052924.3
p.M281fs
c.841_842fs
1 paper
NM_052924.3
p.V288L
c.862G>C
1 paper
NM_052924.3
p.V288L
c.862G>T
1 paper
NM_052924.3
p.A310V
c.929C>T
1 paper
NM_052924.3
p.V316L
c.946G>C
1 paper
NM_052924.3
p.V316L
c.946G>T
1 paper
NM_052924.3
p.A355P
c.1063G>C
1 paper
NM_052924.3
p.P125P
c.375G>A
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