Varaico: Literature-Extracted Genetic Variants

RAB3GAP1

203 papers

RefSeq Summary

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the...

Pfam Domains

Rab3-GTPase_cataa 612–769UCSCRab3 GTPase-activating protein catalytic subunit

Rab3-GAP_cat_Caa 780–981UCSCRab3 GTPase-activating protein catalytic subunit C-terminal

Gene Aliases

HGNC Name

RAB3 GTPase activating protein catalytic subunit 1

HGNC Alias Symbols

KIAA0066; RAB3GAP130; WARBM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012233.3

p.D4fs

c.10_11fs

Surrounding Variants

1 paper

NM_012233.3

p.A3D

c.8C>A

2 papers

NM_012233.3

p.A3delFs

c.9delC

1 paper

NM_012233.3

p.A2fs

c.4_5fs

1 paper

NM_012233.3

p.E6V

c.17A>T

1 paper

NM_012233.3

p.M1insFs

c.2dupT

1 paper

NM_012233.3

p.E8insFs

c.23dupA

2 papers

NM_012233.3

p.E8*

c.22G>T

1 paper

NM_012233.3

p.F12delFs

c.35delT

3 papers

NM_012233.3

p.T18P

c.52A>C

1 paper

NM_012233.3

p.W23*

c.68G>A

3 papers

NM_012233.3

p.W23*

c.69G>A

1 paper

NM_012233.3

p.E24delFs

c.72delA