Varaico: Literature-Extracted Genetic Variants

Gene:RHPN1
Variant:p.P513P

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.P513P
c.1539C>A
Surrounding Variants
1 paper
NM_052924.3
p.S542N
c.1625G>A
1 paper
NM_052924.3
p.A545V
c.1634C>T
1 paper
NM_052924.3
p.T573T
c.1719G>A
1 paper
NM_052924.3
p.L496_G497Splc
c.1488+2T>G
1 paper
NM_052924.3
p.L496P
c.1487T>C
1 paper
NM_052924.3
p.R495W
c.1483C>T
1 paper
NM_052924.3
p.R483H
c.1448G>A
1 paper
NM_052924.3
p.R483C
c.1447C>T
1 paper
NM_052924.3
p.P482S
c.1444C>T
1 paper
NM_052924.3
p.S598C
c.1792A>T
1 paper
NM_052924.3
p.P471insFs
c.1412_1413insC
1 paper
NM_052924.3
p.D601G
c.1802A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."