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

1 paper

NM_181351.5

p.T834_K835insFs

c.2502_2503insA

Surrounding Variants

2 papers

NM_181351.5

p.T834M

c.2501C>T

1 paper

NM_181351.5

p.P838Q

c.2513C>A

1 paper

NM_181351.5

p.P814S

c.2440C>T

1 paper

NM_000615.7

p.K752_A753insFs

c.2256_2257ins4

2 papers

NM_181351.5

p.C749Y

c.2246G>A