Varaico: Literature-Extracted Genetic Variants

NCAM1

228 papers

RefSeq Summary

This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during d...

Pfam Domains

I-setaa 20–114UCSCImmunoglobulin I-set domain

Ig_3aa 120–192UCSCImmunoglobulin domain

I-setaa 214–304UCSCImmunoglobulin I-set domain

Ig_3aa 307–399UCSCImmunoglobulin domain

Ig_3aa 416–493UCSCImmunoglobulin domain

fn3aa 508–604UCSCFibronectin type III domain

Gene Aliases

HGNC Name

neural cell adhesion molecule 1

HGNC Alias Symbol

CD56

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_181351.5

p.V158F

c.472G>T

Surrounding Variants

1 paper

NM_181351.5

p.L160fs

c.478_479fs

1 paper

NM_181351.5

p.L160Q

c.479T>A

1 paper

NM_181351.5

p.K161insFs

c.481dupA

1 paper

NM_181351.5

p.T148A

c.442A>G

1 paper

NM_181351.5

p.V141M

c.421G>A

1 paper

NM_181351.5

p.A135T

c.403G>A

1 paper

NM_181351.5

p.V164Splc

c.490+63A>G

1 paper

NM_181351.5

p.R130Q

c.389G>A

1 paper

NM_181351.5

p.T125_P126insTG

c.373_377ins6

1 paper

NM_181351.5

p.P124S

c.370C>T

1 paper

NM_181351.5

p.A123A

c.369G>A

1 paper

NM_181351.5

p.A123V

c.368C>T