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.K122N

c.366A>T

Surrounding Variants

1 paper

NM_004924.6

p.K122N

c.366A>C

1 paper

NM_004924.6

p.G123S

c.367G>A

1 paper

NM_004924.6

p.L126_V127delFs

c.378_379delGG

1 paper

NM_004924.6

p.V127F

c.379G>T

1 paper

NM_004924.6

p.D117N

c.349G>A

1 paper

NM_004924.6

p.L116M

c.346C>A

1 paper

NM_004924.6

p.K114Q

c.340A>C

1 paper

NM_004924.6

p.V112delFs

c.335_336delTG

1 paper

NM_004924.6

p.N111D

c.331A>G

1 paper

NM_004924.6

p.K108E

c.322A>G

1 paper

NM_004924.6

p.E133Splc

c.397+27T>A

1 paper

NM_004924.6

p.R101Q

c.302G>A