Varaico: Literature-Extracted Genetic Variants

VIL1

82 papers

RefSeq Summary

This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, ...

Pfam Domains

Gelsolinaa 26–108UCSCGelsolin repeat

Gelsolinaa 146–221UCSCGelsolin repeat

Gelsolinaa 266–343UCSCGelsolin repeat

Gelsolinaa 407–489UCSCGelsolin repeat

Gelsolinaa 526–595UCSCGelsolin repeat

Gelsolinaa 630–708UCSCGelsolin repeat

Gene Aliases

HGNC Name

villin 1

HGNC Alias Symbol

D2S1471

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007127.3

p.H96Q

c.288C>G

Surrounding Variants

1 paper

NM_007127.3

p.H96Q

c.288C>A

2 papers

NM_007127.3

p.R97H

c.290G>A

1 paper

NM_007127.3

p.E98K

c.292G>A

1 paper

NM_007127.3

p.V94G

c.281T>G

1 paper

NM_007127.3

p.V94M

c.280G>A

1 paper

NM_007127.3

p.A93G

c.278C>G

1 paper

NM_007127.3

p.R92L

c.275G>T

2 papers

NM_007127.3

p.R92W

c.274C>T

1 paper

NM_007127.3

p.R108*

c.322C>T

1 paper

NM_007127.3

p.R108Q

c.323G>A

1 paper

NM_007127.3

p.Q84*

c.250C>T

1 paper

NM_007127.3

p.A79D

c.236C>A