Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.S897P

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.S897P
c.2689T>C
Surrounding Variants
1 paper
NM_005215.4
p.K896_S897Splc
c.2689-1G>T
2 papers
NM_005215.4
p.N925insFs
c.2774dupA
3 papers
NM_005215.4
p.N925fs
c.2773_2774fs
1 paper
NM_005215.4
p.S932R
c.2794A>C
1 paper
NM_005215.4
p.S932R
c.2796C>A
1 paper
NM_005215.4
p.S932R
c.2796C>G
1 paper
NM_005215.4
p.A935G
c.2804C>G
1 paper
NM_005215.4
p.A935A
c.2805A>T
1 paper
NM_005215.4
p.A943Splc
c.2827+4T>C
4 papers
NM_005215.4
p.A893T
c.2677G>A
2 papers
NM_005215.4
p.S876Y
c.2627C>A
1 paper
NM_005215.4
p.L951F
c.2853G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."