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

6 papers

NM_001104.4

p.M235T

c.704T>C

Surrounding Variants

1 paper

NM_001104.4

p.A238V

c.713C>T

1 paper

NM_001104.4

p.E224_E227del4

c.670_680del12

1 paper

NM_001104.4

p.R211*

c.631C>T

1 paper

NM_001104.4

p.R199Q

c.596G>A

1 paper

NM_001104.4

p.L193F

c.577C>T

1 paper

NM_001104.4

p.A192A

c.576C>T

1 paper

NM_001258371.3

p.P217L

c.650C>T

2 papers

NM_001104.4

p.A173T

c.517G>A

1 paper

NM_001104.4

p.K171fs

c.511_512fs

1 paper

NM_001104.4

p.A251P

c.751G>C

1 paper

NM_001104.4

p.I252F

c.754A>T

1 paper

NM_001104.4

p.M253_T254delFs

c.759_760delGA