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.H409R

c.1226A>G

Surrounding Variants

1 paper

NM_002855.5

p.Q407*

c.1219C>T

1 paper

NM_002855.5

p.L416V

c.1246C>G

7 papers

NM_002855.5

p.V395M

c.1183G>A

1 paper

NM_002855.5

p.R382Q

c.1145G>A

1 paper

NM_002855.5

p.Y436_E437ins1

c.1308_1309insGAG

1 paper

NM_002855.5

p.R381C

c.1141C>T

1 paper

NM_002855.5

p.R380Q

c.1139G>A

1 paper

NM_002855.5

p.G445ins1

c.1333_1334insAGG

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.V370L

c.1108G>C

1 paper

NM_002855.5

p.I369V

c.1105A>G