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.P530S

c.1588C>T

Surrounding Variants

2 papers

NM_006506.5

p.P530L

c.1589C>T

1 paper

NM_006506.5

p.P530_D531Splc

c.1590+5G>A

1 paper

NM_006506.5

p.R526Q

c.1577G>A

1 paper

NM_006506.5

p.R526*

c.1576C>T

1 paper

NM_006506.5

p.T522N

c.1565C>A

8 papers

NM_006506.5

p.R511C

c.1531C>T

1 paper

NM_006506.5

p.L510F

c.1528C>T

1 paper

NM_006506.5

p.S506N

c.1517G>A

1 paper

NM_006506.5

p.Q500*

c.1498C>T

1 paper

NM_006506.5

p.D496N

c.1486G>A

1 paper

NM_006506.5

p.Q491*

c.1471C>T

1 paper

NM_006506.5

p.C479G

c.1435T>G