Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.D819E

DCC

186 papers

RefSeq Summary

This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards s...

Pfam Domains

I-setaa 140–230UCSCImmunoglobulin I-set domain
I-setaa 240–327UCSCImmunoglobulin I-set domain
I-setaa 331–417UCSCImmunoglobulin I-set domain
fn3aa 430–520UCSCFibronectin type III domain
fn3aa 529–616UCSCFibronectin type III domain
fn3aa 624–714UCSCFibronectin type III domain

Gene Aliases

HGNC Name

DCC netrin 1 receptor

HGNC Alias Symbols

IGDCC1; NTN1R1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005215.4
p.D819E
c.2457T>A
Surrounding Variants
1 paper
NM_005215.4
p.P823T
c.2467C>A
1 paper
NM_005215.4
p.V837G
c.2510T>G
1 paper
NM_005215.4
p.D839G
c.2516A>G
1 paper
NM_005215.4
p.L840V
c.2518C>G
1 paper
NM_005215.4
p.T842N
c.2525C>A
1 paper
NM_005215.4
p.D866N
c.2596G>A
1 paper
NM_005215.4
p.S868F
c.2603C>T
2 papers
NM_005215.4
p.S876Y
c.2627C>A
4 papers
NM_005215.4
p.A893T
c.2677G>A
2 papers
NM_005215.4
p.D819N
c.2455G>A
1 paper
NM_005215.4
p.Y809C
c.2426A>G
1 paper
NM_005215.4
p.P807P
c.2421T>A
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