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

2 papers

NM_001104.4

p.Q594*

c.1780C>T

Surrounding Variants

1 paper

NM_001104.4

p.G597E

c.1790G>A

1 paper

NM_001104.4

p.S602C

c.1805C>G

1 paper

NM_001104.4

p.T603N

c.1808C>A

3 papers

NM_001104.4

p.A581A

c.1743C>T

377 papers

NM_001104.4

p.R577*

c.1729C>T

1 paper

NM_001104.4

p.D522delFs

c.1564delG

1 paper

NM_001104.4

p.R513Q

c.1538G>A

1 paper

NM_001104.4

p.E635A

c.1904A>C

2 papers

NM_001104.4

p.E643K

c.1927G>A

1 paper

NM_001104.4

p.L645L

c.1935C>A

1 paper

NM_001104.4

p.R646W

c.1936C>T

1 paper

NM_001104.4

p.E482K

c.1444G>A