Varaico: Literature-Extracted Genetic Variants

Gene:MLN

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
1–12 of 134 variants
4 papers
NM_002418.3
p.E24insFs
c.70_71insG
3 papers
NM_002418.3
p.V15A
c.44T>C
3 papers
NM_002418.3
p.S21A
c.61T>G
3 papers
NM_002418.3
p.A25G
c.74C>G
3 papers
NM_002418.3
p.E40K
c.118G>A
3 papers
NM_002418.3
p.K49I
c.146A>T
2 papers
NM_002418.3
p.M1L
c.1A>T
2 papers
NM_002418.3
p.M1L
c.1A>C
2 papers
NM_002418.3
p.A6V
c.17C>T
2 papers
NM_002418.3
p.A6A
c.18T>A
2 papers
NM_002418.3
p.L11M
c.31C>A
2 papers
NM_002418.3
p.V12L
c.34G>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."