Varaico: Literature-Extracted Genetic Variants

Gene:RHPN1
Variant:p.R428R

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.R428R
c.1284C>T
Surrounding Variants
1 paper
NM_052924.3
p.D455H
c.1363G>C
1 paper
NM_052924.3
p.E462K
c.1384G>A
1 paper
NM_052924.3
p.P467L
c.1400C>T
1 paper
NM_052924.3
p.E371K
c.1111G>A
1 paper
NM_052924.3
p.P471insFs
c.1412_1413insC
1 paper
NM_052924.3
p.P482S
c.1444C>T
1 paper
NM_052924.3
p.R483C
c.1447C>T
1 paper
NM_052924.3
p.R483H
c.1448G>A
1 paper
NM_052924.3
p.D365N
c.1093G>A
1 paper
NM_052924.3
p.R495W
c.1483C>T
1 paper
NM_052924.3
p.L496P
c.1487T>C
1 paper
NM_052924.3
p.L496_G497Splc
c.1488+2T>G
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