Varaico: Literature-Extracted Genetic Variants

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.M168I

c.504G>C

Surrounding Variants

1 paper

NM_005215.4

p.I171V

c.511A>G

1 paper

NM_005215.4

p.I164T

c.491T>C

1 paper

NM_005215.4

p.K175insFs

c.523dupA

1 paper

NM_005215.4

p.N176D

c.526A>G

7 papers

NM_005215.4

p.N176S

c.527A>G

1 paper

NM_005215.4

p.D179G

c.536A>G

1 paper

NM_005215.4

p.D186N

c.556G>A

1 paper

NM_005215.4

p.D186H

c.556G>C

3 papers

NM_005215.4

p.V191insFs

c.571dupG

2 papers

NM_005215.4

p.V191fs

c.571_572fs

1 paper

NM_005215.4

p.S194P

c.580T>C

9 papers

NM_005215.4

p.R201G

c.601C>G