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

7 papers

NM_001103.4

p.R640C

c.1918C>T

Surrounding Variants

4 papers

NM_001103.4

p.R640H

c.1919G>A

1 paper

NM_001103.4

p.R639K

c.1916G>A

3 papers

NM_001103.4

p.R637C

c.1909C>T

2 papers

NM_001103.4

p.E636A

c.1907A>C

2 papers

NM_001103.4

p.E636G

c.1907A>G

12 papers

NM_001103.4

p.A644T

c.1930G>A

1 paper

NM_001103.4

p.E636K

c.1906G>A

1 paper

NM_001103.4

p.A644A

c.1932C>A

1 paper

NM_001103.4

p.H633L

c.1898A>T

1 paper

NM_001103.4

p.R631L

c.1892G>T

1 paper

NM_001103.4

p.R631C

c.1891C>T

1 paper

NM_001103.4

p.A630D

c.1889C>A