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.D479G

c.1436A>G

Surrounding Variants

1 paper

NM_002855.5

p.Y481C

c.1442A>G

1 paper

NM_002855.5

p.A474S

c.1420G>T

1 paper

NM_002855.5

p.D491insFs

c.1472_1473insA

3 papers

NM_002855.5

p.Q494ins1

c.1480_1481insGAG

1 paper

NM_002855.5

p.D463H

c.1387G>C

1 paper

NM_002855.5

p.D496N

c.1486G>A

1 paper

NM_002855.5

p.P456A

c.1366C>G

1 paper

NM_002855.5

p.G455G

c.1365C>G

1 paper

NM_002855.5

p.R451C

c.1351C>T

1 paper

NM_002855.5

p.E444_G445ins0

c.1331_1333dupAGG

3 papers

NM_002855.5

p.E437_E438del1

c.1311_1313delTCC

1 paper

NM_002855.5

p.G445ins1

c.1333_1334insAGG