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

28 papers

NM_001103.4

p.Q9R

c.26A>G

Surrounding Variants

1 paper

NM_001103.4

p.Y10F

c.29A>T

2 papers

NM_001103.4

p.V8M

c.22G>A

1 paper

NM_001103.4

p.G7S

c.19G>A

1 paper

NM_001103.4

p.Y12H

c.34T>C

1 paper

NM_001103.4

p.Y12Fs

c.35delinsTCFs

3 papers

NM_001103.4

p.Y12*

c.36C>A

3 papers

NM_001103.4

p.Y12*

c.36C>G

1 paper

NM_001103.4

p.Q3R

c.8A>G

1 paper

NM_001103.4

p.D15E

c.45C>A

1 paper

NM_001103.4

p.D15E

c.45C>G

1 paper

NM_001103.4

p.N2insFs

c.4dupA

1 paper

NM_001103.4

p.D17V

c.50A>T