Varaico: Literature-Extracted Genetic Variants

ACTN4

308 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-bin...

Pfam Domains

CHaa 50–155UCSCCalponin homology (CH) domain

CHaa 163–270UCSCCalponin homology (CH) domain

Spectrinaa 293–403UCSCSpectrin repeat

Spectrinaa 413–518UCSCSpectrin repeat

Spectrinaa 528–639UCSCSpectrin repeat

Spectrinaa 649–752UCSCSpectrin repeat

Gene Aliases

HGNC Name

actinin alpha 4

HGNC Previous Symbol

FSGS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_004924.6

p.F153L

c.457T>C

Surrounding Variants

7 papers

NM_004924.6

p.F153L

c.459C>A

7 papers

NM_004924.6

p.F153L

c.459C>G

3 papers

NM_004924.6

p.I155T

c.464T>C

1 paper

NM_004924.6

p.I155I

c.465C>T

2 papers

NM_004924.6

p.Q156insFs

c.467_468insT

1 paper

NM_004924.6

p.Q156_D157insFs

c.468_469insT

1 paper

NM_004924.6

p.I149ins3

c.445_446ins9

10 papers

NM_004924.6

p.I149del1

c.445_446delATC

1 paper

NM_004924.6

p.W147*

c.440G>A

2 papers

NM_004924.6

p.S159P

c.475T>C

1 paper

NM_004924.6

p.S159A

c.475T>G

1 paper

NM_004924.6

p.E162A

c.485A>C