Varaico: Literature-Extracted Genetic Variants

Gene:RASAL1
Variant:p.R438C

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.R438C
c.1312C>T
Surrounding Variants
2 papers
NM_001301202.2
p.R438H
c.1313G>A
1 paper
NM_001301202.2
p.A436T
c.1306G>A
1 paper
NM_001301202.2
p.F441I
c.1321T>A
2 papers
NM_001301202.2
p.P435S
c.1303C>T
1 paper
NM_001301202.2
p.S429C
c.1286C>G
1 paper
NM_001301202.2
p.R451H
c.1352G>A
1 paper
NM_001301202.2
p.V423M
c.1267G>A
1 paper
NM_001301202.2
p.L419M
c.1255C>A
1 paper
NM_001301202.2
p.E409*
c.1225G>T
1 paper
NM_001301202.2
p.E404K
c.1210G>A
3 papers
NM_001301202.2
p.A401T
c.1201G>A
2 papers
NM_001301202.2
p.P385S
c.1153C>T
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