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

3 papers

NM_001103.4

p.H254H

c.762C>T

Surrounding Variants

1 paper

NM_001103.4

p.A255V

c.764C>T

1 paper

NM_001103.4

p.A257fs

c.769_770fs

3 papers

NM_001103.4

p.A257V

c.770C>T

1 paper

NM_001103.4

p.A257A

c.771G>A

1 paper

NM_001103.4

p.C251S

c.752G>C

1 paper

NM_001103.4

p.C251S

c.751T>A

3 papers

NM_001103.4

p.A259V

c.776C>T

3 papers

NM_001103.4

p.V249I

c.745G>A

1 paper

NM_001103.4

p.Q261R

c.782A>G

22 papers

NM_001103.4

p.T247M

c.740C>T

4 papers

NM_001103.4

p.M246V

c.736A>G

1 paper

NM_001103.4

p.A244A

c.732C>T