Varaico: Literature-Extracted Genetic Variants

Gene:NEO1
Variant:p.L1227L

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.L1227L
c.3679C>T
Surrounding Variants
1 paper
NM_002499.4
p.R1230G
c.3688A>G
1 paper
NM_002499.4
p.E1219V
c.3656A>T
1 paper
NM_002499.4
p.E1219Q
c.3655G>C
1 paper
NM_002499.4
p.P1240P
c.3720C>A
1 paper
NM_002499.4
p.P1245L
c.3734C>T
1 paper
NM_002499.4
p.S1203F
c.3608C>T
1 paper
NM_002499.4
p.D1162A
c.3485A>C
1 paper
NM_002499.4
p.D1259N
c.3775G>A
1 paper
NM_002499.4
p.S1272Y
c.3815C>A
6 papers
NM_002499.4
p.R1130C
c.3388C>T
1 paper
NM_002499.4
p.R1129H
c.3386G>A
1 paper
NM_002499.4
p.V1114I
c.3340G>A
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