Varaico: Literature-Extracted Genetic Variants

Gene:NRCAM
Variant:p.P539A

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
4 papers
NM_005010.5
p.P539A
c.1615C>G
NM_001037132.4
p.P545A
c.1633C>G
Surrounding Variants
1 paper
NM_001037132.4
p.Y554F
c.1661A>T
1 paper
NM_001037132.4
p.A555V
c.1664C>T
1 paper
NM_001037132.4
p.M562V
c.1684A>G
1 paper
NM_001037132.4
p.K568E
c.1702A>G
1 paper
NM_001037132.4
p.H539Q
c.1617C>G
1 paper
NM_001037132.4
p.H539Q
c.1617C>A
1 paper
NM_001037132.4
p.H539D
c.1615C>G
1 paper
NM_001037132.4
p.N536_V538del0
c.1606_1614del9
1 paper
NM_001037132.4
p.L582M
c.1744C>A
1 paper
NM_001037132.4
p.L582Q
c.1745T>A
1 paper
NM_001037132.4
p.L588Q
c.1763T>A
1 paper
NM_001037132.4
p.N529S
c.1586A>G
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