Varaico: Literature-Extracted Genetic Variants

NEO1

138 papers

RefSeq Summary

This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domai...

Pfam Domains

Ig_2aa 55–148UCSCImmunoglobulin domain

Ig_3aa 152–225UCSCImmunoglobulin domain

I-setaa 249–337UCSCImmunoglobulin I-set domain

I-setaa 341–427UCSCImmunoglobulin I-set domain

fn3aa 440–531UCSCFibronectin type III domain

fn3aa 539–627UCSCFibronectin type III domain

Gene Aliases

HGNC Name

neogenin 1

HGNC Alias Symbols

NGN; HsT17534; IGDCC2; NTN1R2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002499.4

p.L72S

c.215T>C

Surrounding Variants

1 paper

NM_002499.4

p.A76insFs

c.226_227insA

1 paper

NM_002499.4

p.G67G

c.201C>A

1 paper

NM_002499.4

p.P80fs

c.238_239fs

1 paper

NM_002499.4

p.S81C

c.242C>G

1 paper

NM_002499.4

p.Y54F

c.161A>T

1 paper

NM_002499.4

p.I47V

c.139A>G

1 paper

NM_002499.4

p.G44fs

c.130_131fs

2 papers

NM_002499.4

p.R101H

c.302G>A

1 paper

NM_002499.4

p.K121Q

c.361A>C

1 paper

NM_002499.4

p.V133A

c.398T>C

1 paper

NM_002499.4

p.I147L

c.439A>C

1 paper

NM_002499.4

p.I147L

c.439A>T