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

6 papers

NM_005215.4

p.T309fs

c.925_926fs

Surrounding Variants

5 papers

NM_005215.4

p.T309delFs

c.925delA

1 paper

NM_005215.4

p.G306R

c.916G>A

1 paper

NM_005215.4

p.G306R

c.916G>C

1 paper

NM_005215.4

p.Y314delFs

c.942delT

1 paper

NM_005215.4

p.N299S

c.896A>G

1 paper

NM_005215.4

p.A321V

c.962C>T

1 paper

NM_005215.4

p.R283Splc

c.848+2T>C

1 paper

NM_005215.4

p.E277K

c.829G>A

1 paper

NM_005215.4

p.G276S

c.826G>A

1 paper

NM_005215.4

p.G276C

c.826G>T

8 papers

NM_005215.4

p.R275*

c.823C>T

2 papers

NM_005215.4

p.W273R

c.817T>A