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.G276S

c.826G>A

Surrounding Variants

1 paper

NM_005215.4

p.G276C

c.826G>T

8 papers

NM_005215.4

p.R275*

c.823C>T

1 paper

NM_005215.4

p.E277K

c.829G>A

2 papers

NM_005215.4

p.W273R

c.817T>A

2 papers

NM_005215.4

p.W273R

c.817T>C

1 paper

NM_005215.4

p.R283Splc

c.848+2T>C

5 papers

NM_005215.4

p.V263fs

c.787_788fs

2 papers

NM_005215.4

p.V263_G265delFs

c.788_794del7

1 paper

NM_005215.4

p.D256_A257insFs

c.768_769insAG

1 paper

NM_005215.4

p.D256V

c.767A>T

2 papers

NM_005215.4

p.R238R

c.714A>G

1 paper

NM_005215.4

p.N299S

c.896A>G