Varaico: Literature-Extracted Genetic Variants

Gene:ACTL8
Variant:p.E353_W354delFs

ACTL8

53 papers

Pfam Domains

Actinaa 2–366UCSCActin

Gene Aliases

HGNC Name

actin like 8

HGNC Alias Symbol

CT57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030812.3
p.E353_W354delFs
c.1058_1061del4
Surrounding Variants
1 paper
NM_030812.3
p.E353fs
c.1057_1058fs
1 paper
NM_030812.3
p.Y350fs
c.1048_1049fs
1 paper
NM_030812.3
p.Y350insFs
c.1048dupT
2 papers
NM_030812.3
p.M355T
c.1064T>C
1 paper
NM_030812.3
p.A345P
c.1033G>C
1 paper
NM_030812.3
p.T326K
c.977C>A
1 paper
NM_030812.3
p.H294N
c.880C>A
1 paper
NM_030812.3
p.R288H
c.863G>A
1 paper
NM_030812.3
p.C283F
c.848G>T
1 paper
NM_030812.3
p.R274W
c.820C>T
1 paper
NM_030812.3
p.G269V
c.806G>T
1 paper
NM_030812.3
p.P262L
c.785C>T
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