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_001104.4

p.E302V

c.905A>T

Surrounding Variants

1 paper

NM_001104.4

p.D329insFs

c.985_986insAC

1 paper

NM_001104.4

p.D329fs

c.985_986fs

1 paper

NM_001104.4

p.K338E

c.1012A>G

1 paper

NM_001104.4

p.R341S

c.1021C>A

1 paper

NM_001104.4

p.Q347*

c.1039C>T

1 paper

NM_001104.4

p.L355Q

c.1064T>A

1 paper

NM_001104.4

p.Q356*

c.1066C>T

3 papers

NM_001104.4

p.M368I

c.1104G>A

1 paper

NM_001104.4

p.E389A

c.1166A>C

2 papers

NM_001104.4

p.R401R

c.1201C>A

1 paper

NM_001104.4

p.R405Q

c.1214G>A

1 paper

NM_001104.4

p.K416R

c.1247A>G