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.E601delFs

c.1801delG

Surrounding Variants

10 papers

NM_012233.3

p.N598S

c.1793A>G

1 paper

NM_012233.3

p.G603G

c.1809C>A

1 paper

NM_012233.3

p.K596fs

c.1786_1787fs

2 papers

NM_012233.3

p.K596_G597delFs

c.1786_1789del4

1 paper

NM_012233.3

p.P616P

c.1848G>C

1 paper

NM_012233.3

p.E583*

c.1747G>T

1 paper

NM_012233.3

p.Q622*

c.1864C>T

1 paper

NM_012233.3

p.W578*

c.1734G>A

4 papers

NM_012233.3

p.W575*

c.1725G>A

3 papers

NM_012233.3

p.W575*

c.1724G>A

2 papers

NM_012233.3

p.T627insFs

c.1879dupA

2 papers

NM_012233.3

p.T627fs

c.1879_1880fs