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.F335V

c.1003T>G

Surrounding Variants

1 paper

NM_004924.6

p.F335_R336del2

c.1003_1007del6

1 paper

NM_004924.6

p.R336H

c.1007G>A

1 paper

NM_004924.6

p.D337G

c.1010A>G

1 paper

NM_004924.6

p.Q330*

c.988C>T

2 papers

NM_004924.6

p.R340H

c.1019G>A

1 paper

NM_004924.6

p.M328T

c.983T>C

1 paper

NM_004924.6

p.Q326Q

c.978G>A

1 paper

NM_004924.6

p.Q326insFs

c.977_978insA

6 papers

NM_004924.6

p.Q348R

c.1043A>G

1 paper

NM_004924.6

p.Q348L

c.1043A>T

4 papers

NM_004924.6

p.E349G

c.1046A>G

1 paper

NM_004924.6

p.R319C

c.955C>T