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.P309L

c.926C>T

Surrounding Variants

1 paper

NM_001103.4

p.E310K

c.928G>A

1 paper

NM_001103.4

p.E310A

c.929A>C

2 papers

NM_001103.4

p.R307R

c.921G>A

3 papers

NM_001103.4

p.R307Q

c.920G>A

2 papers

NM_001103.4

p.M313L

c.937A>C

2 papers

NM_001103.4

p.M313L

c.937A>T

1 paper

NM_001103.4

p.E305A

c.914A>C

4 papers

NM_001103.4

p.W303*

c.909G>A

1 paper

NM_001103.4

p.A315D

c.944C>A

4 papers

NM_001103.4

p.W303*

c.908G>A

4 papers

NM_001103.4

p.M316T

c.947T>C

3 papers

NM_001103.4

p.T300M

c.899C>T