Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.D479G

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.D479G
c.1436A>G
Surrounding Variants
1 paper
NM_002547.3
p.R481C
c.1441C>T
1 paper
NM_002547.3
p.K474Splc
c.1421-2A>G
1 paper
NM_002547.3
p.L492Q
c.1475T>A
1 paper
NM_002547.3
p.K495fs
c.1483_1484fs
1 paper
NM_002547.3
p.K495delFs
c.1484delT
4 papers
NM_002547.3
p.R497*
c.1489C>T
1 paper
NM_002547.3
p.R497Q
c.1490G>A
1 paper
NM_002547.3
p.L503fs
c.1507_1508fs
1 paper
NM_002547.3
p.L503_I504delFs
c.1508_1511del4
1 paper
NM_002547.3
p.N509Splc
c.1526+2T>G
5 papers
NM_002547.3
p.M461V
c.1381A>G
1 paper
NM_002547.3
p.N455delFs
c.1364delT
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