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

7 papers

NM_005215.4

p.R667H

c.2000G>A

Surrounding Variants

4 papers

NM_005215.4

p.R667fs

c.1999_2000fs

3 papers

NM_005215.4

p.R667insFs

c.1999dupC

1 paper

NM_005215.4

p.R661*

c.1981C>T

4 papers

NM_005215.4

p.F654fs

c.1960_1961fs

3 papers

NM_005215.4

p.F654delFs

c.1962delT

2 papers

NM_005215.4

p.G649E

c.1946G>A

1 paper

NM_005215.4

p.P646fs

c.1936_1937fs

2 papers

NM_005215.4

p.P645S

c.1933C>T