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.W36*

c.108G>A

Surrounding Variants

1 paper

NM_001103.4

p.W36*

c.107G>A

2 papers

NM_001103.4

p.K38R

c.113A>G

1 paper

NM_001103.4

p.Q40_K42del3

c.118_125del9

5 papers

NM_001103.4

p.Q40L

c.119A>T

1 paper

NM_001103.4

p.R41K

c.122G>A

1 paper

NM_001103.4

p.K42fs

c.124_125fs

5 papers

NM_001103.4

p.L31delFs

c.91delC

1 paper

NM_001103.4

p.L30delFs

c.89delT

1 paper

NM_001103.4

p.D29E

c.87C>A

1 paper

NM_001103.4

p.K42_T43Splc

c.126+3C>T

1 paper

NM_001103.4

p.R28_D29insFs

c.84_85ins8

1 paper

NM_001103.4

p.R28_D29insFs

c.84_85ins10