Varaico: Literature-Extracted Genetic Variants

RASAL1

85 papers

RefSeq Summary

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as...

Pfam Domains

C2aa 5–107UCSCC2 domain

C2aa 133–233UCSCC2 domain

RasGAPaa 322–511UCSCGTPase-activator protein for Ras-like GTPase

PHaa 566–672UCSCPH domain

BTKaa 680–709UCSCBTK motif

Gene Aliases

HGNC Name

RAS protein activator like 1

HGNC Previous Name

RAS protein activator like 1 (GAP1 like)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001301202.2

p.M271L

c.811A>C

Surrounding Variants

1 paper

NM_001301202.2

p.M271L

c.811A>T

1 paper

NM_001301202.2

p.R260_L262del0

c.779_784del6

2 papers

NM_001301202.2

p.R260H

c.779G>A

1 paper

NM_001301202.2

p.G248D

c.743G>A

1 paper

NM_001301202.2

p.L292delFs

c.875delA

1 paper

NM_001301202.2

p.T297I

c.890C>T

1 paper

NM_001301202.2

p.L305F

c.913C>T

1 paper

NM_001301202.2

p.T307I

c.920C>T

1 paper

NM_001301202.2

p.R316Q

c.947G>A

1 paper

NM_001301202.2

p.R321H

c.962G>A

3 papers

NM_001301202.2

p.R328W

c.982C>T

1 paper

NM_001301202.2

p.R342H

c.1025G>A