Varaico: Literature-Extracted Genetic Variants

NRCAM

323 papers

RefSeq Summary

Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type...

Pfam Domains

Ig_3aa 45–127UCSCImmunoglobulin domain

I-setaa 270–357UCSCImmunoglobulin I-set domain

Ig_3aa 361–436UCSCImmunoglobulin domain

I-setaa 454–542UCSCImmunoglobulin I-set domain

I-setaa 546–633UCSCImmunoglobulin I-set domain

fn3aa 648–739UCSCFibronectin type III domain

Gene Aliases

HGNC Name

neuronal cell adhesion molecule

HGNC Alias Symbols

KIAA0343; Bravo

Papers

RefSeq ID

Protein change

DNA change

1–12 of 210 variants

3 papers

NM_001037132.4

p.I155T

c.464T>C

3 papers

NM_001037132.4

p.S519G

c.1555A>G

3 papers

NM_001037132.4

p.P545A

c.1633C>G

2 papers

NM_001037132.4

p.R16G

c.46A>G

2 papers

NM_001037132.4

p.K37insFs

c.111dupA

2 papers

NM_001037132.4

p.P46A

c.136C>G

2 papers

NM_001037132.4

p.S79F

c.236C>T

2 papers

NM_001037132.4

p.W180*

c.540G>A

2 papers

NM_001037132.4

p.D242N

c.724G>A

2 papers

NM_001037132.4

p.D242A

c.725A>C

2 papers

NM_001037132.4

p.N279K

c.837C>G

2 papers

NM_001037132.4

p.N279K

c.837C>A