Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.N52Splc

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
6 papers
NM_002547.3
p.N52Splc
c.154+2T>C
Surrounding Variants
1 paper
NM_002547.3
p.I40_N44insFs
c.120_132dup13
5 papers
NM_002547.3
p.A45T
c.133G>A
2 papers
NM_002547.3
p.V39_G43del0
c.116_127del12
3 papers
NM_002547.3
p.V39I
c.115G>A
1 paper
NM_002547.3
p.F35Y
c.104T>A
1 paper
NM_002547.3
p.T32T
c.96C>G
1 paper
NM_002547.3
p.L29insFs
c.85dupC
1 paper
NM_002547.3
p.K23Q
c.67A>C
1 paper
NM_002547.3
p.L13V
c.37C>G
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
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