Varaico: Literature-Extracted Genetic Variants

Gene:MLN
Variant:p.L19L

MLN

454 papers

RefSeq Summary

This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produc...

Pfam Domains

Motilin_ghrelinaa 27–53UCSCMotilin/ghrelin
Motilin_assocaa 61–115UCSCMotilin/ghrelin-associated peptide

Gene Aliases

HGNC Name

motilin

HGNC Alias Name

prepromotilin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002418.3
p.L19L
c.55C>T
Surrounding Variants
1 paper
NM_002418.3
p.L19P
c.56T>C
1 paper
NM_002418.3
p.M18I
c.54G>A
1 paper
NM_002418.3
p.M18K
c.53T>A
1 paper
NM_002418.3
p.M18L
c.52A>T
1 paper
NM_002418.3
p.A17A
c.51C>A
1 paper
NM_002418.3
p.A17insFs
c.50_51insA
3 papers
NM_002418.3
p.S21A
c.61T>G
1 paper
NM_002418.3
p.S21Y
c.62C>A
1 paper
NM_002418.3
p.S21_Q22insFs
c.63_64insA
1 paper
NM_002418.3
p.Q22K
c.64C>A
3 papers
NM_002418.3
p.V15A
c.44T>C
1 paper
NM_002418.3
p.V15E
c.44T>A
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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."