Varaico: Literature-Extracted Genetic Variants

ACTN1

201 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 1–71UCSCCalponin homology (CH) domain

CHaa 31–136UCSCCalponin homology (CH) domain

CHaa 144–251UCSCCalponin homology (CH) domain

Spectrinaa 274–384UCSCSpectrin repeat

Spectrinaa 329–434UCSCSpectrin repeat

Spectrinaa 444–555UCSCSpectrin repeat

Gene Aliases

HGNC Name

actinin alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130004.2

p.Y4F

c.11A>T

Surrounding Variants

1 paper

NM_001130004.2

p.Y4*

c.12T>A

1 paper

NM_001130004.2

p.D2_D5del4

c.4_14del12

1 paper

NM_001130004.2

p.M1_D2delFs

c.2_5del4

1 paper

NM_001130004.2

p.N10S

c.29A>G

4 papers

NM_001130004.2

p.Y12F

c.35A>T

2 papers

NM_001130004.2

p.D20N

c.58G>A

12 papers

NM_001130004.2

p.D22N

c.64G>A

1 paper

NM_001130004.2

p.E30*

c.88G>T

14 papers

NM_001130004.2

p.Q32K

c.94C>A

1 paper

NM_001130004.2

p.K35R

c.104A>G

1 paper

NM_001130004.2

p.K35delFs

c.104delT