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

2 papers

NM_001301202.2

p.V72L

c.214G>C

Surrounding Variants

2 papers

NM_001301202.2

p.V72L

c.214G>T

1 paper

NM_001301202.2

p.F65I

c.193T>A

1 paper

NM_001301202.2

p.V59M

c.175G>A

1 paper

NM_001301202.2

p.W53*

c.159G>A

1 paper

NM_001301202.2

p.W53*

c.158G>A

1 paper

NM_001301202.2

p.A43T

c.127G>A

1 paper

NM_001301202.2

p.I83N

c.248T>A

1 paper

NM_001301202.2

p.I84I

c.252C>T

3 papers

NM_001301202.2

p.A93V

c.278C>T

1 paper

NM_001301202.2

p.R41Splc

c.122+17C>T

1 paper

NM_001301202.2

p.C30F

c.89G>T

1 paper

NM_001301202.2

p.L135F

c.403C>T