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.L658L

c.1972T>C

Surrounding Variants

1 paper

NM_012233.3

p.V657I

c.1969G>A

6 papers

NM_012233.3

p.R671*

c.2011C>T

1 paper

NM_012233.3

p.C678S

c.2032T>A

2 papers

NM_012233.3

p.S685_F686insFs

c.2055_2056ins19

1 paper

NM_012233.3

p.C678S

c.2033G>C

1 paper

NM_012233.3

p.F686insFs

c.2056_2057ins19

1 paper

NM_012233.3

p.F686fs

c.2056_2057fs

1 paper

NM_012233.3

p.F686S

c.2057T>C

1 paper

NM_012233.3

p.Q641_E642Splc

c.1924-851A>G

2 papers

NM_012233.3

p.W701*

c.2103G>A

1 paper

NM_012233.3

p.R705Q

c.2114G>A

1 paper

NM_012233.3

p.E724insFs

c.2170dupG