Varaico: Literature-Extracted Genetic Variants

NECTIN1

178 papers

RefSeq Summary

This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell...

Pfam Domains

V-setaa 34–143UCSCImmunoglobulin V-set domain

C2-set_2aa 148–237UCSCCD80-like C2-set immunoglobulin domain

Ig_3aa 246–320UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

nectin cell adhesion molecule 1

HGNC Previous Symbols

HVEC; ED4; PVRL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002855.5

p.S103S

c.309C>T

Surrounding Variants

1 paper

NM_002855.5

p.F104I

c.310T>A

1 paper

NM_002855.5

p.F99F

c.297C>T

1 paper

NM_002855.5

p.R110C

c.328C>T

7 papers

NM_002855.5

p.S112T

c.334T>A

1 paper

NM_002855.5

p.R94H

c.281G>A

1 paper

NM_002855.5

p.E115K

c.343G>A

1 paper

NM_002855.5

p.E117K

c.349G>A

2 papers

NM_002855.5

p.V89M

c.265G>A

1 paper

NM_002855.5

p.G86D

c.257G>A

1 paper

NM_002855.5

p.F129L

c.385T>C

1 paper

NM_002855.5

p.F129L

c.387C>G

1 paper

NM_002855.5

p.F129L

c.387C>A