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

9 papers

NM_002855.5

p.R212H

c.635G>A

Surrounding Variants

12 papers

NM_002855.5

p.R210H

c.629G>A

1 paper

NM_002855.5

p.A219T

c.655G>A

11 papers

NM_002855.5

p.R199Q

c.596G>A

1 paper

NM_002855.5

p.R234H

c.701G>A

1 paper

NM_002855.5

p.R188L

c.563G>T

1 paper

NM_002855.5

p.T187T

c.561T>A

3 papers

NM_002855.5

p.T187N

c.560C>A

1 paper

NM_002855.5

p.W185delFs

c.554delC

1 paper

NM_002855.5

p.E186fs

c.556_557fs

27 papers

NM_002855.5

p.W185*

c.555G>A

27 papers

NM_002855.5

p.W185*

c.554G>A

1 paper

NM_002855.5

p.L239L

c.717C>T