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.F23L

c.67T>C

Surrounding Variants

3 papers

NM_005215.4

p.F23L

c.69C>A

3 papers

NM_005215.4

p.F23L

c.69C>G

1 paper

NM_005215.4

p.G19*

c.55G>T

5 papers

NM_005215.4

p.P11fs

c.31_32fs

1 paper

NM_005215.4

p.V10G

c.29T>G

2 papers

NM_005215.4

p.N3S

c.8A>G

2 papers

NM_005215.4

p.E2*

c.4G>T

1 paper

NM_005215.4

p.M1K

c.2T>A

2 papers

NM_005215.4

p.M1T

c.2T>C