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

1 paper

NM_004924.6

p.L316P

c.947T>C

Surrounding Variants

1 paper

NM_004924.6

p.D318D

c.954C>T

1 paper

NM_004924.6

p.R319C

c.955C>T

19 papers

NM_004924.6

p.R310Q

c.929G>A

3 papers

NM_004924.6

p.R310W

c.928C>T

1 paper

NM_004924.6

p.Q326insFs

c.977_978insA

1 paper

NM_004924.6

p.Q326Q

c.978G>A

1 paper

NM_004924.6

p.L305L

c.915C>T

1 paper

NM_004924.6

p.M328T

c.983T>C

1 paper

NM_004924.6

p.Q330*

c.988C>T

1 paper

NM_004924.6

p.F335_R336del2

c.1003_1007del6

1 paper

NM_004924.6

p.F335V

c.1003T>G

1 paper

NM_004924.6

p.R336H

c.1007G>A