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.Q806_G807Splc

c.2418+13G>A

Surrounding Variants

1 paper

NM_004924.6

p.Q806_G807Splc

c.2418+14G>A

1 paper

NM_004924.6

p.Q806_G807Splc

c.2418+15G>A

1 paper

NM_004924.6

p.Q806_G807Splc

c.2418+16C>T

1 paper

NM_004924.6

p.Q806_G807Splc

c.2418+17C>T

1 paper

NM_004924.6

p.Q806_G807Splc

c.2418+8A>G

1 paper

NM_004924.6

p.D804N

c.2410G>A

10 papers

NM_004924.6

p.V801M

c.2401G>A

3 papers

NM_004924.6

p.D800D

c.2400C>T

2 papers

NM_004924.6

p.G798D

c.2393G>A

1 paper

NM_004924.6

p.I795V

c.2383A>G

2 papers

NM_004924.6

p.C793Y

c.2378G>A

1 paper

NM_004924.6

p.P787P

c.2361C>T