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

3 papers

NM_001301202.2

p.R795*

c.2383C>T

Surrounding Variants

1 paper

NM_001301202.2

p.R795Q

c.2384G>A

1 paper

NM_001301202.2

p.G796V

c.2387G>T

1 paper

NM_001301202.2

p.A799V

c.2396C>T

1 paper

NM_001301202.2

p.Q769*

c.2305C>T

3 papers

NM_001301202.2

p.L766L

c.2296C>T

1 paper

NM_001301202.2

p.S689I

c.2066G>T

1 paper

NM_001301202.2

p.R669C

c.2005C>T

1 paper

NM_001301202.2

p.K656*

c.1966A>T

1 paper

NM_001301202.2

p.Q654R

c.1961A>G

1 paper

NM_001301202.2

p.V626A

c.1877T>C

2 papers

NM_001193521.3

p.F602L

c.1806C>G

2 papers

NM_001193521.3

p.F602L

c.1806C>A