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.Y242*

c.726T>A

Surrounding Variants

1 paper

NM_012233.3

p.Y242*

c.726T>G

2 papers

NM_012233.3

p.Q240*

c.718C>T

1 paper

NM_012233.3

p.W239R

c.715T>A

1 paper

NM_012233.3

p.W239R

c.715T>C

7 papers

NM_012233.3

p.P248delFs

c.743delC

1 paper

NM_012233.3

p.P248fs

c.742_743fs

3 papers

NM_012233.3

p.P248fs

c.742_743fs

1 paper

NM_012233.3

p.L236F

c.706C>T

1 paper

NM_012233.3

p.V235V

c.705A>T

8 papers

NM_012233.3

p.D250Splc

c.748+1G>A

2 papers

NM_012233.3

p.D250Splc

c.748+2T>G

1 paper

NM_012233.3

p.Y234C

c.701A>G