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

5 papers

NM_006506.5

p.S400F

c.1199C>T

Surrounding Variants

1 paper

NM_006506.5

p.T403I

c.1208C>T

1 paper

NM_006506.5

p.R397K

c.1190G>A

1 paper

NM_006506.5

p.R404L

c.1211G>T

1 paper

NM_006506.5

p.G414*

c.1240G>T

1 paper

NM_006506.5

p.H416Y

c.1246C>T

1 paper

NM_006506.5

p.L426_D427delFs

c.1278_1281del4

1 paper

NM_006506.5

p.D427fs

c.1279_1280fs

1 paper

NM_006506.5

p.E428G

c.1283A>G

1 paper

NM_006506.5

p.P440S

c.1318C>T

1 paper

NM_006506.5

p.I441_K442delFs

c.1321_1325del5

1 paper

NM_006506.5

p.I441_K442del2

c.1321_1325del6

1 paper

NM_006506.5

p.N452fs

c.1354_1355fs