Varaico: Literature-Extracted Genetic Variants

ACTN3

452 papers

RefSeq Summary

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. T...

Pfam Domains

CHaa 45–150UCSCCalponin homology (CH) domain

CHaa 158–265UCSCCalponin homology (CH) domain

Spectrinaa 288–398UCSCSpectrin repeat

Spectrinaa 408–513UCSCSpectrin repeat

Spectrinaa 523–634UCSCSpectrin repeat

Spectrinaa 644–747UCSCSpectrin repeat

Gene Aliases

HGNC Name

actinin alpha 3

HGNC Previous Names

actinin, alpha 3; actinin alpha 3 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001258371.3

p.A105T

c.313G>A

Surrounding Variants

1 paper

NM_001104.4

p.K61*

c.181A>T

1 paper

NM_001104.4

p.R60C

c.178C>T

1 paper

NM_001104.4

p.Q65P

c.194A>C

1 paper

NM_001104.4

p.H58L

c.173A>T

2 papers

NM_001104.4

p.F51S

c.152T>C

1 paper

NM_001104.4

p.N75_G76delFs

c.224_227del4

1 paper

NM_001104.4

p.L79delFs

c.235delC

1 paper

NM_001104.4

p.L79fs

c.235_236fs

1 paper

NM_001104.4

p.V85I

c.253G>A

1 paper

NM_001104.4

p.K98_M99delFs

c.294_295delGA

1 paper

NM_001104.4

p.A105A

c.315C>T

1 paper

NM_001104.4

p.G118A

c.353G>C