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.L702P

c.2105T>C

Surrounding Variants

1 paper

NM_001104.4

p.L702L

c.2104C>T

1 paper

NM_001104.4

p.R646W

c.1936C>T

1 paper

NM_001104.4

p.L645L

c.1935C>A

2 papers

NM_001104.4

p.E643K

c.1927G>A

1 paper

NM_001104.4

p.E635A

c.1904A>C

1 paper

NM_001104.4

p.R728C

c.2182C>T

1 paper

NM_001104.4

p.S737F

c.2210C>T

2 papers

NM_001104.4

p.V745insFs

c.2235dupG

2 papers

NM_001104.4

p.E746D

c.2238G>C

1 paper

NM_001104.4

p.V749L

c.2245G>C

1 paper

NM_001104.4

p.V749L

c.2245G>T

1 paper

NM_001104.4

p.R752Q

c.2255G>A