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

12 papers

NM_001103.4

p.E583A

c.1748A>C

Surrounding Variants

3 papers

NM_001103.4

p.E583G

c.1748A>G

2 papers

NM_001103.4

p.E581K

c.1741G>A

1 paper

NM_001103.4

p.I578_E583del6

c.1732_1748del18

1 paper

NM_001103.4

p.A577fs

c.1729_1730fs

1 paper

NM_001103.4

p.M576T

c.1727T>C

3 papers

NM_001103.4

p.I591V

c.1771A>G

1 paper

NM_001103.4

p.I575V

c.1723A>G

2 papers

NM_001103.4

p.I591M

c.1773C>G

1 paper

NM_001103.4

p.R592G

c.1774A>G

1 paper

NM_001103.4

p.R592I

c.1775G>T

5 papers

NM_001103.4

p.R572W

c.1714C>T

1 paper

NM_001103.4

p.S596R

c.1786A>C