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

2 papers

NM_170692.4

p.V1044V

c.3132G>C

Surrounding Variants

1 paper

NM_170692.4

p.R1058W

c.3172C>T

1 paper

NM_170692.4

p.S1063F

c.3188C>T

1 paper

NM_170692.4

p.R1067delFs

c.3199_3200delAG

1 paper

NM_170692.4

p.R1022Q

c.3065G>A

1 paper

NM_170692.4

p.S1069fs

c.3205_3206fs

1 paper

NM_170692.4

p.Q1083E

c.3247C>G

1 paper

NM_170692.4

p.R988R

c.2964G>A

1 paper

NM_170692.4

p.R988_H989insFs

c.2964_2965ins37

1 paper

NM_170692.4

p.I941M

c.2823A>G

1 paper

NM_170692.4

p.I941T

c.2822T>C

1 paper

NM_170692.4

p.I941V

c.2821A>G

1 paper

NM_170692.4

p.V926delFs

c.2776_2777delGT