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.Q3delFs

c.7delC

Surrounding Variants

1 paper

NM_181351.5

p.Q3K

c.7C>A

2 papers

NM_181351.5

p.Q3fs

c.7_8fs

1 paper

NM_181351.5

p.L2fs

c.4_5fs

1 paper

NM_181351.5

p.L2delFs

c.5delT

1 paper

NM_181351.5

p.M1L

c.1A>C

1 paper

NM_181351.5

p.M1L

c.1A>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.K5insFs

c.14_15insT

1 paper

NM_181351.5

p.L7F

c.19C>T

1 paper

NM_181351.5

p.W9R

c.25T>A

1 paper

NM_181351.5

p.W9R

c.25T>C