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

19 papers

NM_004924.6

p.W59R

c.175T>C

Surrounding Variants

19 papers

NM_004924.6

p.W59R

c.175T>A

1 paper

NM_004924.6

p.T57M

c.170C>T

6 papers

NM_004924.6

p.S62T

c.184T>A

1 paper

NM_004924.6

p.L64L

c.192G>A

1 paper

NM_004924.6

p.R65R

c.195G>C

1 paper

NM_004924.6

p.E72K

c.214G>A

3 papers

NM_004924.6

p.E72Q

c.214G>C

1 paper

NM_004924.6

p.F78_R79delFs

c.233_236del4

1 paper

NM_004924.6

p.L88M

c.262C>A

1 paper

NM_004924.6

p.L88L

c.262C>T

1 paper

NM_004924.6

p.G93Splc

c.277+8T>A

1 paper

NM_004924.6

p.L96F

c.288A>T