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.R947L

c.2840G>T

Surrounding Variants

1 paper

NM_001172435.2

p.R954H

c.2861G>A

1 paper

NM_001172435.2

p.P955_A956insFs

c.2865_2866ins4

2 papers

NM_001172435.2

p.P955fs

c.2863_2864fs

1 paper

NM_001172435.2

p.R954insFs

c.2861_2862dupGC

1 paper

NM_001172435.2

p.A956_P957insFs

c.2868_2869ins4

1 paper

NM_012233.3

p.V945G

c.2834T>G

2 papers

NM_012233.3

p.R942C

c.2824C>T

NM_001172435.2

p.R949C

c.2845C>T

2 papers

NM_012233.3

p.K953Q

c.2857A>C

1 paper

NM_012233.3

p.L955_P956insFs

c.2865_2866ins4

1 paper

NM_012233.3

p.P956_Q957insFs

c.2868_2869ins4

1 paper

NM_001172435.2

p.Q964R

c.2891A>G

1 paper

NM_012233.3

p.R958Q

c.2873G>A