Varaico: Literature-Extracted Genetic Variants

Gene:RASAL1
Variant:p.K482N

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.K482N
c.1446G>C
Surrounding Variants
1 paper
NM_001301202.2
p.K482N
c.1446G>T
1 paper
NM_001301202.2
p.R487W
c.1459C>T
2 papers
NM_001301202.2
p.F474L
c.1422C>G
2 papers
NM_001301202.2
p.F474L
c.1422C>A
2 papers
NM_001301202.2
p.F474L
c.1420T>C
1 paper
NM_001301202.2
p.R472*
c.1414C>T
1 paper
NM_001301202.2
p.Q494K
c.1480C>A
1 paper
NM_001301202.2
p.T495I
c.1484C>T
1 paper
NM_001301202.2
p.G467E
c.1400G>A
1 paper
NM_001301202.2
p.S466N
c.1397G>A
1 paper
NM_001301202.2
p.C534S
c.1600T>A
1 paper
NM_001301202.2
p.C534S
c.1601G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."