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

Selected Variant

1 paper

NM_001037132.4

p.S191C

c.571A>T

Surrounding Variants

1 paper

NM_001037132.4

p.P189L

c.566C>T

1 paper

NM_001037132.4

p.L208delFs

c.624delG

1 paper

NM_001037132.4

p.R213C

c.637C>T

1 paper

NM_001037132.4

p.D215H

c.643G>C

1 paper

NM_001037132.4

p.R221I

c.662G>T

1 paper

NM_001037132.4

p.R221K

c.662G>A

1 paper

NM_001037132.4

p.Q232P

c.695A>C

1 paper

NM_001037132.4

p.I234F

c.700A>T

1 paper

NM_001037132.4

p.V236M

c.706G>A

1 paper

NM_001037132.4

p.S240P

c.718T>C

2 papers

NM_001037132.4

p.D242N

c.724G>A

2 papers

NM_001037132.4

p.D242A

c.725A>C