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.R410Q

c.1229G>A

Surrounding Variants

1 paper

NM_004924.6

p.R410W

c.1228C>T

1 paper

NM_004924.6

p.D412delFs

c.1235delA

1 paper

NM_004924.6

p.D412D

c.1236C>T

1 paper

NM_004924.6

p.H413P

c.1238A>C

1 paper

NM_004924.6

p.R406C

c.1216C>T

1 paper

NM_004924.6

p.E404*

c.1210G>T

1 paper

NM_004924.6

p.Y397S

c.1190A>C

8 papers

NM_004924.6

p.A427T

c.1279G>A

1 paper

NM_004924.6

p.Q388_L390del0

c.1164_1169del6

1 paper

NM_004924.6

p.Q388*

c.1162C>T

2 papers

NM_004924.6

p.I383M

c.1149C>G

1 paper

NM_004924.6

p.G431Splc

c.1291+207C>T