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.W490C

c.1470G>C

Surrounding Variants

1 paper

NM_001103.4

p.W490C

c.1470G>T

1 paper

NM_001103.4

p.D491N

c.1471G>A

2 papers

NM_001103.4

p.W490R

c.1468T>A

2 papers

NM_001103.4

p.W490R

c.1468T>C

3 papers

NM_001103.4

p.R492*

c.1474C>T

1 paper

NM_001103.4

p.Q489*

c.1465C>T

10 papers

NM_001103.4

p.C487R

c.1459T>C

1 paper

NM_001103.4

p.I486T

c.1457T>C

20 papers

NM_001103.4

p.T495M

c.1484C>T

1 paper

NM_001103.4

p.K485E

c.1453A>G

1 paper

NM_001103.4

p.Q498K

c.1492C>A

1 paper

NM_001103.4

p.Q498*

c.1492C>T