Varaico: Literature-Extracted Genetic Variants

Gene:ARTN
Variant:p.L41L

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.L41L
c.123G>T
Surrounding Variants
1 paper
NM_057091.3
p.G42D
c.125G>A
1 paper
NM_057091.3
p.A44_P45ins4
c.130_134ins12
1 paper
NM_057091.3
p.E38A
c.113A>C
1 paper
NM_057091.3
p.P45S
c.133C>T
1 paper
NM_057091.3
p.P45R
c.134C>G
1 paper
NM_057091.3
p.E38_A44delFs
c.112_131del20
1 paper
NM_057091.3
p.A37G
c.110C>G
1 paper
NM_057091.3
p.S35R
c.105C>A
1 paper
NM_057091.3
p.S35R
c.105C>G
1 paper
NM_057091.3
p.P48S
c.142C>T
1 paper
NM_057091.3
p.S35R
c.103A>C
1 paper
NM_057091.3
p.S34S
c.102C>T
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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."