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

1–12 of 158 variants

3 papers

NM_181351.5

p.V43delFs

c.129delG

3 papers

NM_181351.5

p.A91V

c.272C>T

3 papers

NM_181351.5

p.D260N

c.778G>A

2 papers

NM_181351.5

p.Q3delFs

c.7delC

2 papers

NM_181351.5

p.Q3fs

c.7_8fs

2 papers

NM_181351.5

p.V158F

c.472G>T

2 papers

NM_181351.5

p.M567I

c.1701G>T

2 papers

NM_181351.5

p.C749Y

c.2246G>A

2 papers

NM_181351.5

p.T834M

c.2501C>T

1 paper

NM_181351.5

p.M1_L2del0

c.1_6del6

1 paper

NM_181351.5

p.M1_D6del6

c.1_17del18

1 paper

NM_181351.5

p.M1L

c.1A>C