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

1–12 of 270 variants

10 papers

NM_012233.3

p.N598S

c.1793A>G

8 papers

NM_012233.3

p.D250Splc

c.748+1G>A

8 papers

NM_012233.3

p.R337*

c.1009C>T

7 papers

NM_012233.3

p.P248delFs

c.743delC

6 papers

NM_012233.3

p.S300Splc

c.899+1G>A

6 papers

NM_012233.3

p.R491*

c.1471C>T

6 papers

NM_012233.3

p.R671*

c.2011C>T

5 papers

NM_012233.3

p.P934delFs

c.2801delC

4 papers

NM_012233.3

p.E24V

c.71A>T

4 papers

NM_012233.3

p.T159_G160delFs

c.475_478del4

4 papers

NM_012233.3

p.R174*

c.520C>T

4 papers

NM_012233.3

p.I216_G217Splc

c.649-2A>G