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

2 papers

NM_005215.4

p.V134L

c.400G>C

Surrounding Variants

1 paper

NM_005215.4

p.G138R

c.412G>A

1 paper

NM_005215.4

p.G138R

c.412G>C

7 papers

NM_005215.4

p.S126*

c.377C>A

7 papers

NM_005215.4

p.S126*

c.377C>G

1 paper

NM_005215.4

p.E118E

c.354G>A

1 paper

NM_005215.4

p.Q91R

c.272A>G

1 paper

NM_005215.4

p.G84R

c.250G>A

1 paper

NM_005215.4

p.G84R

c.250G>C

1 paper

NM_005215.4

p.D77Y

c.229G>T

1 paper

NM_005215.4

p.S65_G68ins1

c.195_203dup9

1 paper

NM_005215.4

p.C61S

c.182G>C

1 paper

NM_005215.4

p.C61S

c.181T>A