Varaico: Literature-Extracted Genetic Variants

Gene:NRCAM
Variant:p.D55G

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.D55G
c.164A>G
Surrounding Variants
1 paper
NM_001037132.4
p.K54*
c.160A>T
1 paper
NM_001037132.4
p.D59Y
c.175G>T
1 paper
NM_001037132.4
p.Q51L
c.152A>T
1 paper
NM_001037132.4
p.I64M
c.192T>G
2 papers
NM_001037132.4
p.P46A
c.136C>G
1 paper
NM_001037132.4
p.V43I
c.127G>A
1 paper
NM_001037132.4
p.C68R
c.202T>C
1 paper
NM_001037132.4
p.E69K
c.205G>A
1 paper
NM_001037132.4
p.C68_G72delFs
c.204_214del11
1 paper
NM_001037132.4
p.G72G
c.216G>T
1 paper
NM_001037132.4
p.P76P
c.228A>G
1 paper
NM_001037132.4
p.S77Splc
c.230+824G>A
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