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.P351L

c.1052C>T

Surrounding Variants

1 paper

NM_002855.5

p.G350W

c.1048G>T

1 paper

NM_002855.5

p.A349A

c.1047C>T

1 paper

NM_002855.5

p.A349T

c.1045G>A

2 papers

NM_002855.5

p.R347delFs

c.1041delC

1 paper

NM_002855.5

p.A355T

c.1063G>A

1 paper

NM_002855.5

p.P351_T354del0

c.1052_1060del9

2 papers

NM_002855.5

p.G346E

c.1037G>A

2 papers

NM_002855.5

p.I357T

c.1070T>C

1 paper

NM_002855.5

p.P343delFs

c.1027delG

1 paper

NM_002855.5

p.V360M

c.1078G>A

1 paper

NM_002855.5

p.P337insFs

c.1010_1011insA

1 paper

NM_002855.5

p.F336L

c.1008C>G