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.V368V

c.1104G>A

Surrounding Variants

1 paper

NM_001103.4

p.S369W

c.1106C>G

4 papers

NM_001103.4

p.S369L

c.1106C>T

1 paper

NM_001103.4

p.V368M

c.1102G>A

2 papers

NM_001103.4

p.S369S

c.1107G>A

1 paper

NM_001103.4

p.S369_D370Splc

c.1107+5G>A

2 papers

NM_001103.4

p.E364K

c.1090G>A

3 papers

NM_001103.4

p.M361V

c.1081A>G

3 papers

NM_001103.4

p.R357H

c.1070G>A

1 paper

NM_001103.4

p.S355I

c.1064G>T

1 paper

NM_001103.4

p.S355C

c.1063A>T

3 papers

NM_001103.4

p.R353Q

c.1058G>A

8 papers

NM_001103.4

p.R353W

c.1057C>T