Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.K128_E129Splc

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.K128_E129Splc
c.384+3A>C
Surrounding Variants
1 paper
NM_002547.3
p.K128_E129Splc
c.384+2T>C
1 paper
NM_002547.3
p.K128delFs
c.383delT
1 paper
NM_002547.3
p.K128fs
c.382_383fs
2 papers
NM_002547.3
p.L116_T127del12
c.346_380del36
1 paper
NM_002547.3
p.R120R
c.360G>A
1 paper
NM_002547.3
p.L111L
c.333G>A
1 paper
NM_002547.3
p.H106H
c.318C>T
1 paper
NM_002547.3
p.M104_V105Splc
c.313-1G>T
2 papers
NM_002547.3
p.M104_V105Splc
c.312+1G>C
1 paper
NM_002547.3
p.F87_N99delFs
c.261_297del37
1 paper
NM_002547.3
p.E98*
c.292G>T
1 paper
NM_002547.3
p.N95N
c.285C>T
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