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

4 papers

NM_004924.6

p.V261E

c.782T>A

Surrounding Variants

1 paper

NM_004924.6

p.V261V

c.783G>A

22 papers

NM_004924.6

p.S262P

c.784T>C

14 papers

NM_004924.6

p.S262F

c.785C>T

1 paper

NM_004924.6

p.Y260_S263del0

c.779_787del9

1 paper

NM_004924.6

p.T259T

c.777C>T

3 papers

NM_004924.6

p.T259N

c.776C>A

21 papers

NM_004924.6

p.T259I

c.776C>T

3 papers

NM_004924.6

p.Y260_S262del0

c.778_786del9

7 papers

NM_004924.6

p.Y265H

c.793T>C

1 paper

NM_004924.6

p.Y265F

c.794A>T

1 paper

NM_004924.6

p.I257V

c.769A>G

1 paper

NM_004924.6

p.A256D

c.767C>A