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.R187P

c.560G>C

Surrounding Variants

1 paper

NM_012233.3

p.R187Q

c.560G>A

2 papers

NM_012233.3

p.R187*

c.559C>T

2 papers

NM_012233.3

p.E180*

c.538G>T

1 paper

NM_012233.3

p.V178_Q182del5

c.532_545del15

4 papers

NM_012233.3

p.R174*

c.520C>T

1 paper

NM_012233.3

p.W173*

c.519G>A

1 paper

NM_012233.3

p.W173*

c.518G>A

3 papers

NM_012233.3

p.H171delFs

c.513delC

2 papers

NM_012233.3

p.H171fs

c.511_512fs

1 paper

NM_012233.3

p.V167delFs

c.500_501delTG

1 paper

NM_012233.3

p.P164R

c.491C>G

1 paper

NM_012233.3

p.D210_I211insFs

c.630_631insC