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.F565fs

c.1693_1694fs

Surrounding Variants

1 paper

NM_006506.5

p.T564insFs

c.1692dupA

1 paper

NM_006506.5

p.K584_F585Splc

c.1752+1G>T

1 paper

NM_006506.5

p.S557N

c.1670G>A

1 paper

NM_006506.5

p.G552E

c.1655G>A

1 paper

NM_006506.5

p.S550R

c.1650C>A

1 paper

NM_006506.5

p.S550R

c.1650C>G

1 paper

NM_006506.5

p.S550R

c.1648A>C

4 papers

NM_006506.5

p.I535V

c.1603A>G

1 paper

NM_006506.5

p.T534fs

c.1600_1601fs

1 paper

NM_006506.5

p.D531E

c.1593T>A

1 paper

NM_006506.5

p.D531E

c.1593T>G

1 paper

NM_006506.5

p.D531N

c.1591G>A