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

4 papers

NM_012233.3

p.T159_G160delFs

c.475_478del4

Surrounding Variants

2 papers

NM_012233.3

p.T159fs

c.475_476fs

1 paper

NM_012233.3

p.N158delFs

c.473delA

1 paper

NM_012233.3

p.G160V

c.479G>T

1 paper

NM_012233.3

p.S151fs

c.451_452fs

1 paper

NM_012233.3

p.S151delFs

c.452_453delCT

1 paper

NM_012233.3

p.A138T

c.412G>A

1 paper

NM_012233.3

p.S136insFs

c.407_408insT

1 paper

NM_012233.3

p.A134fs

c.400_401fs

2 papers

NM_012233.3

p.A134_S136delFs

c.401_407del7

1 paper

NM_012233.3

p.P132S

c.394C>T

2 papers

NM_012233.3

p.W121*

c.363G>A

1 paper

NM_012233.3

p.P164R

c.491C>G