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.W740delFs

c.2218delT

Surrounding Variants

1 paper

NM_012233.3

p.W740fs

c.2218_2219fs

1 paper

NM_012233.3

p.P732A

c.2194C>G

1 paper

NM_012233.3

p.P732fs

c.2194_2195fs

1 paper

NM_012233.3

p.P732delFs

c.2195delC

2 papers

NM_012233.3

p.M729_K730delins

c.2187_2188delinsCT

1 paper

NM_012233.3

p.M729_K730delFs

c.2187_2188delGA

1 paper

NM_012233.3

p.F755L

c.2263T>C

1 paper

NM_012233.3

p.E724fs

c.2170_2171fs

1 paper

NM_012233.3

p.E724insFs

c.2170dupG

1 paper

NM_012233.3

p.F755L

c.2265T>A

3 papers

NM_012233.3

p.F755F

c.2265T>C

1 paper

NM_012233.3

p.F755L

c.2265T>G