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

9 papers

NM_001103.4

p.D230E

c.690T>A

Surrounding Variants

9 papers

NM_001103.4

p.D230E

c.690T>G

1 paper

NM_001103.4

p.D230N

c.688G>A

2 papers

NM_001103.4

p.L229W

c.686T>G

1 paper

NM_001103.4

p.M228K

c.683T>A

23 papers

NM_001103.4

p.M228T

c.683T>C

1 paper

NM_001103.4

p.M228V

c.682A>G

2 papers

NM_001103.4

p.D233Splc

c.697+1G>A

1 paper

NM_001103.4

p.D233Splc

c.697+2T>C

2 papers

NM_001103.4

p.D224G

c.671A>G

3 papers

NM_001103.4

p.L223P

c.668T>C

1 paper

NM_001103.4

p.H222P

c.665A>C

1 paper

NM_001103.4

p.H222delFs

c.665_666delAC