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.G805E

c.2414G>A

Surrounding Variants

5 papers

NM_005215.4

p.G803R

c.2407G>A

4 papers

NM_005215.4

p.G803R

c.2407G>C

1 paper

NM_005215.4

p.P807P

c.2421T>A

1 paper

NM_005215.4

p.Y809C

c.2426A>G

3 papers

NM_005215.4

p.N800fs

c.2398_2399fs

2 papers

NM_005215.4

p.N800insFs

c.2399dupA

7 papers

NM_005215.4

p.V793G

c.2378T>G

2 papers

NM_005215.4

p.D819N

c.2455G>A

1 paper

NM_005215.4

p.S788fs

c.2362_2363fs

1 paper

NM_005215.4

p.S788_I794del7

c.2362_2381del21

1 paper

NM_005215.4

p.D819E

c.2457T>A

1 paper

NM_005215.4

p.P823T

c.2467C>A