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

4 papers

NM_001103.4

p.R608Q

c.1823G>A

Surrounding Variants

4 papers

NM_001103.4

p.R608W

c.1822C>T

1 paper

NM_001103.4

p.D605G

c.1814A>G

7 papers

NM_001103.4

p.M604V

c.1810A>G

1 paper

NM_001103.4

p.K613_V614Splc

c.1839+1G>A

2 papers

NM_001103.4

p.K613_V614Splc

c.1839+5G>C

1 paper

NM_001103.4

p.Y599*

c.1797C>A

1 paper

NM_001103.4

p.Y599*

c.1797C>G

2 papers

NM_001103.4

p.P598L

c.1793C>T

1 paper

NM_001103.4

p.N597H

c.1789A>C

1 paper

NM_001103.4

p.S596R

c.1788C>A

1 paper

NM_001103.4

p.S596R

c.1788C>G

1 paper

NM_001103.4

p.S596R

c.1786A>C