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.L223F

c.669G>C

Surrounding Variants

2 papers

NM_012233.3

p.L223F

c.669G>T

1 paper

NM_012233.3

p.P222fs

c.664_665fs

3 papers

NM_012233.3

p.P222delFs

c.665delC

1 paper

NM_012233.3

p.L220*

c.659T>A

1 paper

NM_012233.3

p.L220*

c.659T>G

2 papers

NM_012233.3

p.P219delFs

c.657delT

1 paper

NM_012233.3

p.P219A

c.655C>G

1 paper

NM_012233.3

p.I228T

c.683T>C

4 papers

NM_012233.3

p.I216_G217Splc

c.649-2A>G

4 papers

NM_012233.3

p.R231*

c.691C>T

1 paper

NM_012233.3

p.Y234C

c.701A>G

1 paper

NM_012233.3

p.V235V

c.705A>T