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

6 papers

NM_012233.3

p.P934delFs

c.2801delC

NM_001172435.2

p.P940delFs

c.2818delC

Surrounding Variants

1 paper

NM_012233.3

p.P932P

c.2796A>C

1 paper

NM_001172435.2

p.P941A

c.2821C>G

1 paper

NM_012233.3

p.P934fs

c.2800_2801fs

1 paper

NM_001172435.2

p.P941L

c.2822C>T

1 paper

NM_012233.3

p.A935T

c.2803G>A

4 papers

NM_001172435.2

p.S934delFs

c.2801delC

2 papers

NM_012233.3

p.R942C

c.2824C>T

NM_001172435.2

p.R949C

c.2845C>T

1 paper

NM_012233.3

p.V945G

c.2834T>G

1 paper

NM_001172435.2

p.R954insFs

c.2861_2862dupGC

1 paper

NM_001172435.2

p.R954H

c.2861G>A

1 paper

NM_012233.3

p.R947L

c.2840G>T

1 paper

NM_001172435.2

p.P955_A956insFs

c.2865_2866ins4