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

1–12 of 661 variants

28 papers

NM_001103.4

p.Q9R

c.26A>G

27 papers

NM_001103.4

p.A119T

c.355G>A

23 papers

NM_001103.4

p.M228T

c.683T>C

22 papers

NM_001103.4

p.T247M

c.740C>T

20 papers

NM_001103.4

p.T495M

c.1484C>T

14 papers

NM_001103.4

p.G111V

c.332G>T

14 papers

NM_001103.4

p.D475N

c.1423G>A

12 papers

NM_001103.4

p.E583A

c.1748A>C

12 papers

NM_001103.4

p.E628G

c.1883A>G

12 papers

NM_001103.4

p.A644T

c.1930G>A

11 papers

NM_001103.4

p.R298H

c.893G>A

10 papers

NM_001103.4

p.C487R

c.1459T>C