Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.L13V

OPHN1

140 papers

RefSeq Summary

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell m...

Pfam Domains

BAR_3aa 6–249UCSCBAR domain of APPL family
PHaa 266–365UCSCPH domain
RhoGAPaa 388–537UCSCRhoGAP domain

Gene Aliases

HGNC Name

oligophrenin 1

HGNC Previous Symbol

MRX60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002547.3
p.L13V
c.37C>G
Surrounding Variants
1 paper
NM_002547.3
p.D10D
c.30C>T
1 paper
NM_002547.3
p.S9S
c.27C>T
1 paper
NM_002547.3
p.S9N
c.26G>A
1 paper
NM_002547.3
p.F8delFs
c.23delA
1 paper
NM_002547.3
p.F8C
c.23T>G
1 paper
NM_002547.3
p.E7insFs
c.19dupG
1 paper
NM_002547.3
p.P4L
c.11C>T
1 paper
NM_002547.3
p.K23Q
c.67A>C
1 paper
NM_002547.3
p.G2R
c.4G>C
1 paper
NM_002547.3
p.M1insFs
c.2dupT
1 paper
NM_002547.3
p.M1Fs
c.3delinsTAFs
1 paper
NM_002547.3
p.M1V
c.1A>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."