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

Selected Variant

1 paper

NM_170692.4

p.K332*

c.994A>T

Surrounding Variants

1 paper

NM_170692.4

p.A330S

c.988G>T

1 paper

NM_170692.4

p.K327fs

c.979_980fs

1 paper

NM_170692.4

p.A326delFs

c.978delC

1 paper

NM_170692.4

p.R320C

c.958C>T

1 paper

NM_170692.4

p.E316K

c.946G>A

1 paper

NM_170692.4

p.G361V

c.1082G>T

1 paper

NM_170692.4

p.K381K

c.1143G>A

1 paper

NM_170692.4

p.E384fs

c.1150_1151fs

2 papers

NM_170692.4

p.K389delFs

c.1166delA

1 paper

NM_170692.4

p.R433W

c.1297C>T

1 paper

NM_170692.4

p.R437H

c.1310G>A

1 paper

NM_170692.4

p.I443V

c.1327A>G