Varaico: Literature-Extracted Genetic Variants

VILL

70 papers

RefSeq Summary

The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]...

Pfam Domains

Gelsolinaa 21–106UCSCGelsolin repeat

Gelsolinaa 144–220UCSCGelsolin repeat

Gelsolinaa 265–341UCSCGelsolin repeat

Gelsolinaa 401–482UCSCGelsolin repeat

Gelsolinaa 519–588UCSCGelsolin repeat

Gelsolinaa 624–699UCSCGelsolin repeat

Gene Aliases

HGNC Name

villin like

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_015873.4

p.V395L

c.1183G>C

Surrounding Variants

4 papers

NM_015873.4

p.V395L

c.1183G>T

1 paper

NM_015873.4

p.Q404*

c.1210C>T

1 paper

NM_015873.4

p.R410H

c.1229G>A

1 paper

NM_015873.4

p.Q440K

c.1318C>A

2 papers

NM_015873.4

p.Q440_G441Splc

c.1320+2T>G

1 paper

NM_015873.4

p.Q440_G441Splc

c.1321-2A>T

1 paper

NM_015873.4

p.V466I

c.1396G>A

1 paper

NM_015873.4

p.H480N

c.1438C>A

1 paper

NM_015873.4

p.E394_V395Splc

c.1183-616G>T

1 paper

NM_015873.4

p.H498N

c.1492C>A

1 paper

NM_015873.4

p.N520K

c.1560C>G

1 paper

NM_015873.4

p.W550_F551delFs

c.1648_1652del5