Varaico: Literature-Extracted Genetic Variants

RASA2

147 papers

RefSeq Summary

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting...

Pfam Domains

C2aa 38–140UCSCC2 domain

C2aa 171–291UCSCC2 domain

RasGAPaa 377–448UCSCGTPase-activator protein for Ras-like GTPase

RasGAPaa 444–550UCSCGTPase-activator protein for Ras-like GTPase

PHaa 605–706UCSCPH domain

BTKaa 714–743UCSCBTK motif

Gene Aliases

HGNC Name

RAS p21 protein activator 2

HGNC Alias Symbol

GAP1M

Papers

RefSeq ID

Protein change

DNA change

1–12 of 185 variants

8 papers

NM_006506.5

p.R511C

c.1531C>T

5 papers

NM_006506.5

p.R310*

c.928C>T

5 papers

NM_006506.5

p.Y326N

c.976T>A

5 papers

NM_006506.5

p.S400F

c.1199C>T

4 papers

NM_006506.5

p.Y326C

c.977A>G

4 papers

NM_006506.5

p.I535V

c.1603A>G

2 papers

NM_006506.5

p.M1L

c.1A>C

2 papers

NM_006506.5

p.P6L

c.17C>T

2 papers

NM_006506.5

p.A9V

c.26C>T

2 papers

NM_006506.5

p.E23K

c.67G>A

2 papers

NM_006506.5

p.R35*

c.103C>T

2 papers

NM_006506.5

p.R75H

c.224G>A