Varaico: Literature-Extracted Genetic Variants

Gene:ASPG
Variant:p.E49K

ASPG

265 papers

Pfam Domains

Asparaginaseaa 10–220UCSCAsparaginase, N-terminal
Asparaginase_Caa 237–352UCSCGlutaminase/Asparaginase C-terminal domain
Ank_2aa 404–497UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

asparaginase

HGNC Previous Symbol

C14orf76

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080464.3
p.E49K
c.145G>A
Surrounding Variants
1 paper
NM_001080464.3
p.E48A
c.143A>C
1 paper
NM_001080464.3
p.H50H
c.150C>T
1 paper
NM_001080464.3
p.F45L
c.135C>A
1 paper
NM_001080464.3
p.R54G
c.160C>G
1 paper
NM_001080464.3
p.R54H
c.161G>A
1 paper
NM_001080464.3
p.R54_G55insFs
c.162_163insA
1 paper
NM_001080464.3
p.L42Q
c.125T>A
1 paper
NM_001080464.3
p.L42P
c.125T>C
1 paper
NM_001080464.3
p.S57P
c.169T>C
1 paper
NM_001080464.3
p.R40K
c.119G>A
1 paper
NM_001080464.3
p.S57S
c.171T>A
1 paper
NM_001080464.3
p.S57S
c.171T>C
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