Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.R243W

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
5 papers
NM_002547.3
p.R243W
c.727C>T
Surrounding Variants
1 paper
NM_002547.3
p.R243L
c.728G>T
1 paper
NM_002547.3
p.T242P
c.724A>C
1 paper
NM_002547.3
p.L249P
c.746T>C
3 papers
NM_002547.3
p.K251fs
c.751_752fs
3 papers
NM_002547.3
p.L249_K251insFs
c.745_752dup8
1 paper
NM_002547.3
p.P257S
c.769C>T
1 paper
NM_002547.3
p.N234_T235Splc
c.702+4A>T
2 papers
NM_002547.3
p.N234_T235Splc
c.702+4A>G
1 paper
NM_002547.3
p.N234_T235Splc
c.702+2T>C
1 paper
NM_002547.3
p.N234T
c.701A>C
4 papers
NM_002547.3
p.Q233*
c.697C>T
1 paper
NM_002547.3
p.Q226_Q227del2
c.676_680del6
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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."