Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6B
Variant:p.Q278*

ACTL6B

90 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an acti...

Pfam Domains

Actinaa 8–426UCSCActin

Gene Aliases

HGNC Name

actin like 6B

HGNC Previous Symbol

ACTL6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016188.5
p.Q278*
c.832C>T
Surrounding Variants
1 paper
NM_016188.5
p.V275L
c.823G>T
1 paper
NM_016188.5
p.V275L
c.823G>C
1 paper
NM_016188.5
p.Q274Splc
c.822-1G>A
2 papers
NM_016188.5
p.Q274*
c.820C>T
1 paper
NM_016188.5
p.H283Q
c.849C>G
3 papers
NM_016188.5
p.Y284*
c.852C>G
2 papers
NM_016188.5
p.Y284*
c.852C>A
1 paper
NM_016188.5
p.P287S
c.859C>T
1 paper
NM_016188.5
p.N288S
c.863A>G
2 papers
NM_016188.5
p.Y294D
c.880T>G
1 paper
NM_016188.5
p.G295D
c.884G>A
5 papers
NM_016188.5
p.R298*
c.892C>T
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