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.S373N

c.1118G>A

Surrounding Variants

1 paper

NM_181351.5

p.L418R

c.1253T>G

1 paper

NM_181351.5

p.I434_E437delFs

c.1302_1309del8

1 paper

NM_181351.5

p.A444_S447delFs

c.1332_1339del8

1 paper

NM_181351.5

p.W448R

c.1342T>C

1 paper

NM_181351.5

p.T468_P469insFs

c.1404_1405insG

1 paper

NM_181351.5

p.P469insFs

c.1405_1406insG

1 paper

NM_181351.5

p.D479Y

c.1435G>T

1 paper

NM_181351.5

p.D508Splc

c.1522+1G>A

1 paper

NM_181351.5

p.S511fs

c.1531_1532fs

1 paper

NM_181351.5

p.E519D

c.1557G>C

1 paper

NM_181351.5

p.E519D

c.1557G>T

1 paper

NM_181351.5

p.Y521C

c.1562A>G