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.S300Splc

c.899+1G>A

Surrounding Variants

1 paper

NM_012233.3

p.S300Splc

c.899+1G>C

2 papers

NM_012233.3

p.S300F

c.899C>T

1 paper

NM_012233.3

p.E290D

c.870A>C

1 paper

NM_012233.3

p.E290D

c.870A>T

1 paper

NM_012233.3

p.E290K

c.868G>A

1 paper

NM_012233.3

p.T289T

c.867C>T

1 paper

NM_012233.3

p.I305V

c.913A>G

2 papers

NM_012233.3

p.W310*

c.929G>A

1 paper

NM_012233.3

p.W310*

c.930G>A

1 paper

NM_012233.3

p.R315*

c.943C>T

1 paper

NM_012233.3

p.D274Y

c.820G>T

1 paper

NM_012233.3

p.C272C

c.816C>T