Varaico: Literature-Extracted Genetic Variants

RASA1

1,546 papers

RefSeq Summary

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its...

Pfam Domains

SH2aa 181–256UCSCSH2 domain

SH3_1aa 285–333UCSCSH3 domain

SH2aa 351–426UCSCSH2 domain

PHaa 475–577UCSCPH domain

C2aa 594–692UCSCC2 domain

RasGAPaa 769–841UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS p21 protein activator 1

HGNC Alias Symbols

CM-AVM; p120GAP; p120RASGAP; p120

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002890.3

p.P440S

c.1318C>T

Surrounding Variants

1 paper

NM_002890.3

p.V441L

c.1321G>C

2 papers

NM_002890.3

p.P442S

c.1324C>T

1 paper

NM_002890.3

p.P442Q

c.1325C>A

2 papers

NM_002890.3

p.M443_Q444insFs

c.1328_1331dup4

5 papers

NM_002890.3

p.L437R

c.1310T>G

1 paper

NM_002890.3

p.Q444insFs

c.1331_1332insA

1 paper

NM_002890.3

p.Q444fs

c.1330_1331fs

1 paper

NM_002890.3

p.Y435*

c.1305T>A

1 paper

NM_002890.3

p.Y435*

c.1305T>G

1 paper

NM_002890.3

p.Q444H

c.1332G>C

1 paper

NM_002890.3

p.Q444H

c.1332G>T

1 paper

NM_002890.3

p.Q444_D445Splc

c.1332+1G>A