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.R89Q

c.266G>A

Surrounding Variants

1 paper

NM_001103.4

p.R89G

c.265C>G

2 papers

NM_001103.4

p.R89W

c.265C>T

2 papers

NM_001103.4

p.G90R

c.268G>C

1 paper

NM_001103.4

p.K91E

c.271A>G

1 paper

NM_001103.4

p.P87S

c.259C>T

4 papers

NM_001103.4

p.M92V

c.274A>G

1 paper

NM_001103.4

p.M92K

c.275T>A

8 papers

NM_001103.4

p.R93Q

c.278G>A

1 paper

NM_001103.4

p.P85S

c.253C>T

1 paper

NM_001103.4

p.F94L

c.280T>C

2 papers

NM_001103.4

p.N101S

c.302A>G

1 paper

NM_001103.4

p.D105N

c.313G>A