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

1 paper

NM_001103.4

p.Y19*

c.57C>A

Surrounding Variants

6 papers

NM_001103.4

p.M20V

c.58A>G

1 paper

NM_001103.4

p.M20T

c.59T>C

1 paper

NM_001103.4

p.E18A

c.53A>C

1 paper

NM_001103.4

p.E18Q

c.52G>C

1 paper

NM_001103.4

p.D17V

c.50A>T

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.E25*

c.73G>T

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.Y12Fs

c.35delinsTCFs

1 paper

NM_001103.4

p.D27Y

c.79G>T