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.I83F

c.247A>T

Surrounding Variants

1 paper

NM_181351.5

p.A86T

c.256G>A

1 paper

NM_181351.5

p.D90fs

c.268_269fs

1 paper

NM_181351.5

p.D90Y

c.268G>T

1 paper

NM_181351.5

p.D90delFs

c.269delA

3 papers

NM_181351.5

p.A91V

c.272C>T

1 paper

NM_181351.5

p.Y94Y

c.282C>T

1 paper

NM_181351.5

p.K95*

c.283A>T

1 paper

NM_181351.5

p.D102N

c.304G>A

1 paper

NM_181351.5

p.D102Y

c.304G>T

1 paper

NM_181351.5

p.S104R

c.310A>C

1 paper

NM_181351.5

p.S104R

c.312T>A

1 paper

NM_181351.5

p.S104R

c.312T>G