Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.R171S

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.R171S
c.513G>T
Surrounding Variants
1 paper
NM_002547.3
p.R171S
c.513G>C
1 paper
NM_002547.3
p.E176*
c.526G>T
1 paper
NM_002547.3
p.Y181C
c.542A>G
2 papers
NM_002547.3
p.Y183insFs
c.549dupT
1 paper
NM_002547.3
p.Q184fs
c.550_551fs
6 papers
NM_002547.3
p.Q186*
c.556C>T
1 paper
NM_002547.3
p.Q186K
c.556C>A
1 paper
NM_002547.3
p.Q186Q
c.558G>A
1 paper
NM_002547.3
p.K192delFs
c.575_576delCT
3 papers
NM_002547.3
p.V197E
c.590T>A
1 paper
NM_002547.3
p.E198V
c.593A>T
1 paper
NM_002547.3
p.P199A
c.595C>G
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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."