Varaico: Literature-Extracted Genetic Variants

Gene:GMIP
Variant:p.P789L

GMIP

51 papers

RefSeq Summary

This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separate...

Pfam Domains

GMIP-like_FCHaa 91–356UCSCGEM-interacting protein-like, FCH domain
RhoGAPaa 565–723UCSCRhoGAP domain

Gene Aliases

HGNC Name

GEM interacting protein

HGNC Alias Symbol

ARHGAP46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016573.4
p.P789L
c.2366C>T
Surrounding Variants
1 paper
NM_016573.4
p.D792N
c.2374G>A
1 paper
NM_016573.4
p.Q764fs
c.2290_2291fs
1 paper
NM_016573.4
p.Q764delFs
c.2290delG
1 paper
NM_016573.4
p.R699Q
c.2096G>A
1 paper
NM_016573.4
p.L646V
c.1936C>G
2 papers
NM_016573.4
p.D641N
c.1921G>A
1 paper
NM_016573.4
p.R594C
c.1780C>T
1 paper
NM_016573.4
p.P561L
c.1682C>T
1 paper
NM_016573.4
p.R545Q
c.1634G>A
1 paper
NM_016573.4
p.R497G
c.1489C>G
1 paper
NM_016573.4
p.H494D
c.1480C>G
1 paper
NM_016573.4
p.D467E
c.1401C>G
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