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

1 paper

NM_002890.3

p.E508V

c.1523A>T

Surrounding Variants

2 papers

NM_002890.3

p.S509N

c.1526G>A

1 paper

NM_002890.3

p.F507fs

c.1519_1520fs

3 papers

NM_002890.3

p.E510K

c.1528G>A

1 paper

NM_002890.3

p.F507insFs

c.1519_1520insT

2 papers

NM_002890.3

p.Y506fs

c.1516_1517fs

1 paper

NM_002890.3

p.Y506insFs

c.1517_1518dupAT

1 paper

NM_002890.3

p.I505V

c.1513A>G

1 paper

NM_002890.3

p.I505fs

c.1513_1514fs

9 papers

NM_002890.3

p.R512*

c.1534C>T

1 paper

NM_002890.3

p.I505insFs

c.1513_1514insAA

1 paper

NM_002890.3

p.R512Q

c.1535G>A

1 paper

NM_002890.3

p.L504P

c.1511T>C