Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.Q62*

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
8 papers
NM_002547.3
p.Q62*
c.184C>T
Surrounding Variants
1 paper
NM_002547.3
p.Q65R
c.194A>G
1 paper
NM_002547.3
p.Q65H
c.195G>C
1 paper
NM_002547.3
p.A56_V57delins
c.168_171delinsA
1 paper
NM_002547.3
p.V57D
c.170T>A
1 paper
NM_002547.3
p.Q68R
c.203A>G
1 paper
NM_002547.3
p.S54insFs
c.161dupC
2 papers
NM_002547.3
p.N52Splc
c.155-2A>C
1 paper
NM_002547.3
p.L76delFs
c.226_227delAG
1 paper
NM_002547.3
p.A84Splc
c.250+2T>C
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."