Varaico: Literature-Extracted Genetic Variants

ACTN2

474 papers

RefSeq Summary

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-bind...

Pfam Domains

CHaa 38–143UCSCCalponin homology (CH) domain

CHaa 151–258UCSCCalponin homology (CH) domain

Spectrinaa 281–391UCSCSpectrin repeat

Spectrinaa 401–506UCSCSpectrin repeat

Spectrinaa 516–627UCSCSpectrin repeat

Spectrinaa 637–740UCSCSpectrin repeat

Gene Aliases

HGNC Name

actinin alpha 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_001103.4

p.D475N

c.1423G>A

Surrounding Variants

1 paper

NM_001103.4

p.D475G

c.1424A>G

3 papers

NM_001103.4

p.A476T

c.1426G>A

1 paper

NM_001103.4

p.A476S

c.1426G>T

5 papers

NM_001103.4

p.Y473C

c.1418A>G

2 papers

NM_001103.4

p.N478I

c.1433A>T

2 papers

NM_001103.4

p.L471V

c.1411C>G

1 paper

NM_001103.4

p.E470G

c.1409A>G

1 paper

NM_001103.4

p.E470K

c.1408G>A

3 papers

NM_001103.4

p.N480S

c.1439A>G

1 paper

NM_001103.4

p.D481Y

c.1441G>T

1 paper

NM_001103.4

p.D481G

c.1442A>G

1 paper

NM_001103.4

p.R482G

c.1444C>G