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

1 paper

NM_006506.5

p.S82S

c.246T>G

Surrounding Variants

1 paper

NM_006506.5

p.S82F

c.245C>T

1 paper

NM_006506.5

p.L83I

c.247T>A

1 paper

NM_006506.5

p.S82T

c.244T>A

1 paper

NM_006506.5

p.S82A

c.244T>G

1 paper

NM_006506.5

p.K81Q

c.241A>C

1 paper

NM_006506.5

p.T76S

c.227C>G

1 paper

NM_006506.5

p.T76S

c.226A>T

2 papers

NM_006506.5

p.R75H

c.224G>A

1 paper

NM_006506.5

p.R75C

c.223C>T

1 paper

NM_006506.5

p.Q70H

c.210G>C

1 paper

NM_006506.5

p.Q70H

c.210G>T

1 paper

NM_006506.5

p.C62G

c.184T>G