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

1–12 of 339 variants

67 papers

NM_004924.6

p.K255E

c.763A>G

22 papers

NM_004924.6

p.S262P

c.784T>C

21 papers

NM_004924.6

p.T259I

c.776C>T

19 papers

NM_004924.6

p.W59R

c.175T>A

19 papers

NM_004924.6

p.W59R

c.175T>C

19 papers

NM_004924.6

p.R310Q

c.929G>A

14 papers

NM_004924.6

p.S262F

c.785C>T

10 papers

NM_004924.6

p.I149del1

c.445_446delATC

10 papers

NM_004924.6

p.V801M

c.2401G>A

8 papers

NM_004924.6

p.A427T

c.1279G>A

7 papers

NM_004924.6

p.F153L

c.457T>C

7 papers

NM_004924.6

p.F153L

c.459C>A