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.M567I

c.1701G>T

Surrounding Variants

1 paper

NM_181351.5

p.E568*

c.1702G>T

1 paper

NM_181351.5

p.V574M

c.1720G>A

1 paper

NM_181351.5

p.A588S

c.1762G>T

1 paper

NM_181351.5

p.A588V

c.1763C>T

1 paper

NM_000615.7

p.A589V

c.1766C>T

1 paper

NM_001076682.4

p.P604Splc

c.1810+1G>A

1 paper

NM_181351.5

p.E564G

c.1691A>G

1 paper

NM_000615.7

p.G541C

c.1621G>T

1 paper

NM_181351.5

p.Y521C

c.1562A>G

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.S511fs

c.1531_1532fs