Varaico: Literature-Extracted Genetic Variants

Gene:ACTL8
Variant:p.V254_E257delFs

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.V254_E257delFs
c.761_771del11
Surrounding Variants
1 paper
NM_030812.3
p.V254fs
c.760_761fs
1 paper
NM_030812.3
p.E257D
c.771G>C
1 paper
NM_030812.3
p.E257D
c.771G>T
1 paper
NM_030812.3
p.V246M
c.736G>A
3 papers
NM_030812.3
p.R245C
c.733C>T
1 paper
NM_030812.3
p.P262L
c.785C>T
1 paper
NM_030812.3
p.Q239E
c.715C>G
1 paper
NM_030812.3
p.G269V
c.806G>T
1 paper
NM_030812.3
p.R274W
c.820C>T
1 paper
NM_030812.3
p.L232F
c.696G>C
1 paper
NM_030812.3
p.L232F
c.696G>T
1 paper
NM_030812.3
p.S230fs
c.688_689fs
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