Varaico: Literature-Extracted Genetic Variants

Gene:ARTN
Variant:p.R72H

ARTN

590 papers

RefSeq Summary

This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family b...

Pfam Domains

TGF_betaaa 122–218UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

artemin

HGNC Alias Symbols

EVN; ENOVIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_057091.3
p.R72H
c.215G>A
Surrounding Variants
4 papers
NM_057091.3
p.R72P
c.215G>C
1 paper
NM_057091.3
p.S75_G76insFs
c.225_226insAC
1 paper
NM_057091.3
p.G67G
c.201G>C
1 paper
NM_057091.3
p.A78T
c.232G>A
1 paper
NM_057091.3
p.R80P
c.239G>C
1 paper
NM_057091.3
p.P81S
c.241C>T
2 papers
NM_057091.3
p.P81L
c.242C>T
2 papers
NM_057091.3
p.Q84L
c.251A>T
1 paper
NM_057091.3
p.S86C
c.257C>G
1 paper
NM_057091.3
p.P88L
c.263C>T
1 paper
NM_057091.3
p.P90S
c.268C>T
1 paper
NM_057091.3
p.P90H
c.269C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."