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.D305G

c.914A>G

Surrounding Variants

1 paper

NM_006506.5

p.G307R

c.919G>A

1 paper

NM_006506.5

p.G307R

c.919G>C

1 paper

NM_006506.5

p.G307W

c.919G>T

5 papers

NM_006506.5

p.R310*

c.928C>T

1 paper

NM_006506.5

p.G297E

c.890G>A

1 paper

NM_006506.5

p.Q292*

c.874C>T

1 paper

NM_006506.5

p.L291P

c.872T>C

1 paper

NM_006506.5

p.V320M

c.958G>A

1 paper

NM_006506.5

p.Y289C

c.866A>G

1 paper

NM_006506.5

p.Y289H

c.865T>C

1 paper

NM_006506.5

p.Y325D

c.973T>G

5 papers

NM_006506.5

p.Y326N

c.976T>A