Varaico: Literature-Extracted Genetic Variants

Gene:GMIP
Variant:p.A229insFs

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.A229insFs
c.685dupG
Surrounding Variants
1 paper
NM_016573.4
p.A229fs
c.685_686fs
1 paper
NM_016573.4
p.R228P
c.683G>C
1 paper
NM_016573.4
p.E236K
c.706G>A
1 paper
NM_016573.4
p.Y220*
c.660T>G
1 paper
NM_016573.4
p.Y220*
c.660T>A
1 paper
NM_016573.4
p.P240S
c.718C>T
1 paper
NM_016573.4
p.P244L
c.731C>T
1 paper
NM_016573.4
p.K248K
c.744G>A
1 paper
NM_016573.4
p.E202G
c.605A>G
1 paper
NM_016573.4
p.R318W
c.952C>T
1 paper
NM_016573.4
p.R324C
c.970C>T
1 paper
NM_016573.4
p.A328T
c.982G>A
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