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

Selected Variant

2 papers

NM_006506.5

p.E23K

c.67G>A

Surrounding Variants

1 paper

NM_006506.5

p.A26A

c.78C>T

1 paper

NM_006506.5

p.D28delFs

c.82delG

1 paper

NM_006506.5

p.D28fs

c.82_83fs

1 paper

NM_006506.5

p.A17V

c.50C>T

1 paper

NM_006506.5

p.D30V

c.89A>T

2 papers

NM_006506.5

p.R35*

c.103C>T

1 paper

NM_006506.5

p.R35P

c.104G>C

1 paper

NM_006506.5

p.R35L

c.104G>T

1 paper

NM_006506.5

p.A10V

c.29C>T

2 papers

NM_006506.5

p.A9V

c.26C>T

2 papers

NM_006506.5

p.P6L

c.17C>T

1 paper

NM_006506.5

p.L40L

c.118C>T