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.E295K

c.883G>A

Surrounding Variants

1 paper

NM_001103.4

p.E295*

c.883G>T

1 paper

NM_001103.4

p.I297N

c.890T>A

1 paper

NM_001103.4

p.R298C

c.892C>T

11 papers

NM_001103.4

p.R298H

c.893G>A

4 papers

NM_001103.4

p.R299C

c.895C>T

1 paper

NM_001103.4

p.E292_L293Splc

c.877-6G>A

2 papers

NM_001103.4

p.R299H

c.896G>A

3 papers

NM_001103.4

p.E292_L293Splc

c.877-8C>G

1 paper

NM_001103.4

p.T300A

c.898A>G

3 papers

NM_001103.4

p.T300M

c.899C>T

4 papers

NM_001103.4

p.W303*

c.908G>A

4 papers

NM_001103.4

p.W303*

c.909G>A