Varaico: Literature-Extracted Genetic Variants

Gene:ACTL6A
Variant:p.G19R

ACTL6A

73 papers

RefSeq Summary

This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an AT...

Pfam Domains

Actinaa 8–429UCSCActin

Gene Aliases

HGNC Name

actin like 6A

HGNC Alias Symbols

Actl6; BAF53A; Arp4; Baf53a; INO80K; SMARCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004301.5
p.G19R
c.55G>A
Surrounding Variants
1 paper
NM_004301.5
p.I18T
c.53T>C
1 paper
NM_004301.5
p.D17E
c.51C>A
1 paper
NM_004301.5
p.D17E
c.51C>G
1 paper
NM_004301.5
p.V15V
c.45T>C
1 paper
NM_004301.5
p.V23Fs
c.68delinsAAAAAAAAAAAGFs
1 paper
NM_004301.5
p.G12delFs
c.35_36delGA
1 paper
NM_004301.5
p.G26D
c.77G>A
1 paper
NM_004301.5
p.G29C
c.85G>T
1 paper
NM_004301.5
p.G29delins
c.85_86delinsTT
1 paper
NM_004301.5
p.G29D
c.86G>A
1 paper
NM_004301.5
p.V35M
c.103G>A
1 paper
NM_004301.5
p.P38L
c.113C>T
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