Varaico: Literature-Extracted Genetic Variants

RAB3GAP2

168 papers

RefSeq Summary

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activat...

Pfam Domains

RAB3GAP2_Naa 74–498UCSCRab3 GTPase-activating protein regulatory subunit N-terminus

RAB3GAP2_Caa 768–1369UCSCRab3 GTPase-activating protein regulatory subunit C-terminus

Gene Aliases

HGNC Name

RAB3 GTPase activating non-catalytic protein subunit 2

HGNC Alias Symbols

RAB3-GAP150; KIAA0839; DKFZP434D245; SPG69

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012414.4

p.I726T

c.2177T>C

Surrounding Variants

2 papers

NM_012414.4

p.I726V

c.2176A>G

1 paper

NM_012414.4

p.K728*

c.2182A>T

1 paper

NM_012414.4

p.K727_K728delFs

c.2181_2184del4

1 paper

NM_012414.4

p.A736V

c.2207C>T

1 paper

NM_012414.4

p.T694A

c.2080A>G

1 paper

NM_012414.4

p.W743insFs

c.2227dupT

1 paper

NM_012414.4

p.K744fs

c.2230_2231fs

1 paper

NM_012414.4

p.K744Fs

c.2230delinsTGTGGFs

1 paper

NM_012414.4

p.G748A

c.2243G>C

1 paper

NM_012414.4

p.T752fs

c.2254_2255fs

1 paper

NM_012414.4

p.T752delFs

c.2254delT

1 paper

NM_012414.4

p.D754N

c.2260G>A