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.Q46*

c.136C>T

Surrounding Variants

1 paper

NM_001104.4

p.M2_M3del2

c.4_8del6

1 paper

NM_001104.4

p.M1delFs

c.2_3delTG

1 paper

NM_001104.4

p.M1K

c.2T>A

1 paper

NM_001104.4

p.M2I

c.6G>C

1 paper

NM_001104.4

p.Q6E

c.16C>G

1 paper

NM_001104.4

p.G13G

c.39G>A

1 paper

NM_001104.4

p.G15R

c.43G>A

1 paper

NM_001104.4

p.G15R

c.43G>C

1 paper

NM_001104.4

p.E25E

c.75G>A

1 paper

NM_001104.4

p.D40N

c.118G>A

2 papers

NM_001104.4

p.P41Q

c.122C>A

2 papers

NM_001104.4

p.F51S

c.152T>C