Varaico: Literature-Extracted Genetic Variants

Gene:ACTBL2
Variant:p.N253K

ACTBL2

54 papers

Pfam Domains

Actinaa 3–376UCSCActin

Gene Aliases

HGNC Name

actin beta like 2

HGNC Alias Symbol

DKFZp686D0972

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017992.4
p.N253K
c.759T>G
Surrounding Variants
1 paper
NM_001017992.4
p.N253K
c.759T>A
1 paper
NM_001017992.4
p.E260*
c.778G>T
1 paper
NM_001017992.4
p.S240T
c.719G>C
1 paper
NM_001017992.4
p.R239Q
c.716G>A
1 paper
NM_001017992.4
p.E271*
c.811G>T
1 paper
NM_001017992.4
p.E271G
c.812A>G
1 paper
NM_001017992.4
p.E227K
c.679G>A
1 paper
NM_001017992.4
p.S282F
c.845C>T
1 paper
NM_001017992.4
p.V220I
c.658G>A
1 paper
NM_001017992.4
p.Y219Y
c.657C>T
1 paper
NM_001017992.4
p.E215G
c.644A>G
1 paper
NM_001017992.4
p.E215Q
c.643G>C
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