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

1–12 of 135 variants

27 papers

NM_002855.5

p.W185*

c.554G>A

27 papers

NM_002855.5

p.W185*

c.555G>A

12 papers

NM_002855.5

p.R210H

c.629G>A

11 papers

NM_002855.5

p.R199Q

c.596G>A

9 papers

NM_002855.5

p.R212H

c.635G>A

7 papers

NM_002855.5

p.S112T

c.334T>A

7 papers

NM_002855.5

p.V395M

c.1183G>A

6 papers

NM_002855.5

p.T131A

c.391A>G

6 papers

NM_002855.5

p.R134*

c.400C>T

3 papers

NM_002855.5

p.S174T

c.520T>A

3 papers

NM_002855.5

p.T187N

c.560C>A

3 papers

NM_002855.5

p.E437_E438del1

c.1311_1313delTCC