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.D342fs

c.1024_1025fs

Surrounding Variants

2 papers

NM_012233.3

p.D342delFs

c.1026delT

1 paper

NM_012233.3

p.E339Q

c.1015G>C

8 papers

NM_012233.3

p.R337*

c.1009C>T

4 papers

NM_012233.3

p.R347*

c.1039C>T

1 paper

NM_012233.3

p.R337delFs

c.1009delC

1 paper

NM_012233.3

p.R336H

c.1007G>A

4 papers

NM_012233.3

p.R336C

c.1006C>T

1 paper

NM_012233.3

p.C335fs

c.1003_1004fs

1 paper

NM_012233.3

p.C335delFs

c.1003delT

1 paper

NM_012233.3

p.K333*

c.997A>T

1 paper

NM_012233.3

p.G325Splc

c.974-2A>G

1 paper

NM_012233.3

p.E369delFs

c.1106_1107delAG