Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.V215delFs

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
4 papers
NM_002547.3
p.V215delFs
c.644_645delCA
Surrounding Variants
4 papers
NM_002547.3
p.V215fs
c.643_644fs
1 paper
NM_002547.3
p.T214insFs
c.641_642insC
1 paper
NM_002547.3
p.L213fs
c.637_638fs
1 paper
NM_002547.3
p.L213insFs
c.637dupC
1 paper
NM_002547.3
p.L213Q
c.638T>A
1 paper
NM_002547.3
p.Q226R
c.677A>G
1 paper
NM_002547.3
p.Q226_Q227del2
c.676_680del6
4 papers
NM_002547.3
p.Q233*
c.697C>T
1 paper
NM_002547.3
p.N234T
c.701A>C
1 paper
NM_002547.3
p.N234_T235Splc
c.702+2T>C
1 paper
NM_002547.3
p.N234_T235Splc
c.702+4A>T
2 papers
NM_002547.3
p.N234_T235Splc
c.702+4A>G
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