Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.T345A

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.T345A
c.1033A>G
Surrounding Variants
1 paper
NM_002547.3
p.R342Splc
c.1026-1G>T
1 paper
NM_002547.3
p.P368_I369Splc
c.1105-86G>A
1 paper
NM_002547.3
p.T375P
c.1123A>C
1 paper
NM_002547.3
p.M380Splc
c.1138+1G>A
1 paper
NM_002547.3
p.T399I
c.1196C>T
1 paper
NM_002547.3
p.I402V
c.1204A>G
1 paper
NM_002547.3
p.R409C
c.1225C>T
1 paper
NM_002547.3
p.R409P
c.1226G>C
1 paper
NM_002547.3
p.R409H
c.1226G>A
5 papers
NM_002547.3
p.G412D
c.1235G>A
1 paper
NM_002547.3
p.V417_Q418del2
c.1249_1253del6
1 paper
NM_002547.3
p.L421P
c.1262T>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."