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.G111R

c.331G>A

Surrounding Variants

1 paper

NM_001103.4

p.G111R

c.331G>C

1 paper

NM_001103.4

p.V112delFs

c.334delG

14 papers

NM_001103.4

p.G111V

c.332G>T

1 paper

NM_001103.4

p.G111_V112ins1

c.333_334insTCA

1 paper

NM_001103.4

p.V112E

c.335T>A

1 paper

NM_001103.4

p.A108T

c.322G>A

4 papers

NM_001103.4

p.V115M

c.343G>A

1 paper

NM_001103.4

p.D105N

c.313G>A

4 papers

NM_001103.4

p.I117I

c.351T>C

1 paper

NM_001103.4

p.G118S

c.352G>A

1 paper

NM_001103.4

p.G118C

c.352G>T

1 paper

NM_001103.4

p.G118G

c.354C>T