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

8 papers

NM_001103.4

p.T347M

c.1040C>T

Surrounding Variants

2 papers

NM_001103.4

p.Q349L

c.1046A>T

1 paper

NM_001103.4

p.N344S

c.1031A>G

1 paper

NM_001103.4

p.T350I

c.1049C>T

1 paper

NM_001103.4

p.N344_T347del4

c.1030_1040del12

1 paper

NM_001103.4

p.I343delFs

c.1029delC

1 paper

NM_001103.4

p.L352Q

c.1055T>A

8 papers

NM_001103.4

p.R353W

c.1057C>T

3 papers

NM_001103.4

p.R353Q

c.1058G>A

1 paper

NM_001103.4

p.S355C

c.1063A>T

1 paper

NM_001103.4

p.S355I

c.1064G>T

3 papers

NM_001103.4

p.R357H

c.1070G>A

2 papers

NM_001103.4

p.K334N

c.1002G>C