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.R143fs

c.427_428fs

Surrounding Variants

1 paper

NM_001037132.4

p.R143delFs

c.428delC

1 paper

NM_001037132.4

p.L152P

c.455T>C

1 paper

NM_001037132.4

p.E153K

c.457G>A

1 paper

NM_001037132.4

p.E153G

c.458A>G

1 paper

NM_001037132.4

p.E153A

c.458A>C

3 papers

NM_001037132.4

p.I155T

c.464T>C

1 paper

NM_001037132.4

p.S159N

c.476G>A

1 paper

NM_001037132.4

p.G172E

c.515G>A

1 paper

NM_001037132.4

p.P176L

c.527C>T

1 paper

NM_001037132.4

p.I178I

c.534A>C

1 paper

NM_001037132.4

p.W180*

c.539G>A

2 papers

NM_001037132.4

p.W180*

c.540G>A