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

1–12 of 103 variants

377 papers

NM_001104.4

p.R577*

c.1729C>T

6 papers

NM_001104.4

p.M235T

c.704T>C

3 papers

NM_001104.4

p.A262T

c.784G>A

3 papers

NM_001104.4

p.M368I

c.1104G>A

3 papers

NM_001104.4

p.A581A

c.1743C>T

2 papers

NM_001104.4

p.P41Q

c.122C>A

2 papers

NM_001104.4

p.F51S

c.152T>C

2 papers

NM_001104.4

p.T137I

c.410C>T

2 papers

NM_001104.4

p.A173T

c.517G>A

2 papers

NM_001104.4

p.R401R

c.1201C>A

2 papers

NM_001104.4

p.Q594*

c.1780C>T

2 papers

NM_001104.4

p.E643K

c.1927G>A