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

2 papers

NM_012233.3

p.R489H

c.1466G>A

Surrounding Variants

1 paper

NM_012233.3

p.R489C

c.1465C>T

1 paper

NM_012233.3

p.R491R

c.1471C>A

6 papers

NM_012233.3

p.R491*

c.1471C>T

1 paper

NM_012233.3

p.L497insFs

c.1491dupG

1 paper

NM_012233.3

p.G476E

c.1427G>A

1 paper

NM_012233.3

p.G473fs

c.1417_1418fs

2 papers

NM_012233.3

p.G473_K475delFs

c.1417_1423del7

4 papers

NM_012233.3

p.Y470*

c.1410C>A

3 papers

NM_012233.3

p.Y470*

c.1410C>G

2 papers

NM_012233.3

p.Y470fs

c.1408_1409fs

3 papers

NM_012233.3

p.F469_G473Fs

c.1407_1417delinsCCATFs

1 paper

NM_012233.3

p.C465R

c.1393T>C