Varaico: Literature-Extracted Genetic Variants

Gene:CDON
Variant:p.H199L

CDON

161 papers

RefSeq Summary

This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domai...

Pfam Domains

Ig_3aa 28–101UCSCImmunoglobulin domain
Ig_3aa 221–294UCSCImmunoglobulin domain
I-setaa 312–397UCSCImmunoglobulin I-set domain
Ig_3aa 404–504UCSCImmunoglobulin domain
fn3aa 584–671UCSCFibronectin type III domain
fn3aa 722–813UCSCFibronectin type III domain

Gene Aliases

HGNC Name

cell adhesion associated, oncogene regulated

HGNC Alias Symbols

ORCAM; CDON1; Ihog

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378964.1
p.H199L
c.596A>T
Surrounding Variants
1 paper
NM_001378964.1
p.H199R
c.596A>G
1 paper
NM_001378964.1
p.L201I
c.601T>A
1 paper
NM_001378964.1
p.E204*
c.610G>T
1 paper
NM_001378964.1
p.G207C
c.619G>T
1 paper
NM_001378964.1
p.G207D
c.620G>A
5 papers
NM_001378964.1
p.R208*
c.622C>T
1 paper
NM_001378964.1
p.G187V
c.560G>T
1 paper
NM_001378964.1
p.Q177*
c.529C>T
1 paper
NM_001378964.1
p.N175I
c.524A>T
1 paper
NM_001378964.1
p.N175T
c.524A>C
1 paper
NM_001378964.1
p.Y168insFs
c.502_503insT
1 paper
NM_001378964.1
p.D218N
c.652G>A
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