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.D281N

c.841G>A

Surrounding Variants

1 paper

NM_181351.5

p.A283T

c.847G>A

1 paper

NM_181351.5

p.I274delFs

c.821delT

1 paper

NM_181351.5

p.T273insFs

c.817dupA

1 paper

NM_181351.5

p.D268G

c.803A>G

1 paper

NM_181351.5

p.D267E

c.801C>A

1 paper

NM_181351.5

p.D267E

c.801C>G

1 paper

NM_181351.5

p.Q296H

c.888G>C

1 paper

NM_181351.5

p.A298V

c.893C>T

1 paper

NM_181351.5

p.E261K

c.781G>A

3 papers

NM_181351.5

p.D260N

c.778G>A

1 paper

NM_181351.5

p.E255G

c.764A>G

1 paper

NM_181351.5

p.M245R

c.734T>G