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.E369fs

c.1105_1106fs

Surrounding Variants

1 paper

NM_012233.3

p.E369delFs

c.1106_1107delAG

1 paper

NM_012233.3

p.A387delFs

c.1161delA

2 papers

NM_012233.3

p.R392*

c.1174C>T

3 papers

NM_012233.3

p.R392Q

c.1175G>A

1 paper

NM_012233.3

p.G396A

c.1187G>C

1 paper

NM_012233.3

p.V397L

c.1189G>C

1 paper

NM_012233.3

p.V397L

c.1189G>T

1 paper

NM_012233.3

p.E398*

c.1192G>T

1 paper

NM_012233.3

p.S400P

c.1198T>C

1 paper

NM_012233.3

p.N403delFs

c.1208delA

1 paper

NM_012233.3

p.N404I

c.1211A>T

1 paper

NM_012233.3

p.L407_N408insT

c.1219_1223ins3