Varaico: Literature-Extracted Genetic Variants

RASAL2

108 papers

RefSeq Summary

This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. T...

Pfam Domains

PH_RASGAPaa 34–157UCSCPH domain-like

C2aa 169–269UCSCC2 domain

RasGAPaa 348–420UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS protein activator like 2

HGNC Alias Symbol

nGAP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 117 variants

2 papers

NM_170692.4

p.P28Q

c.83C>A

2 papers

NM_170692.4

p.G148S

c.442G>A

2 papers

NM_170692.4

p.K389delFs

c.1166delA

2 papers

NM_170692.4

p.D808G

c.2423A>G

2 papers

NM_170692.4

p.Q854*

c.2560C>T

2 papers

NM_170692.4

p.V903V

c.2709G>C

2 papers

NM_170692.4

p.V1044V

c.3132G>C

1 paper

NM_170692.4

p.L3I

c.7C>A

1 paper

NM_170692.4

p.P17P

c.51G>T

1 paper

NM_170692.4

p.A22V

c.65C>T

1 paper

NM_170692.4

p.V38delFs

c.112delG

1 paper

NM_170692.4

p.V38fs

c.112_113fs