Varaico: Literature-Extracted Genetic Variants

Gene:MLN
Variant:p.M1delFs

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.M1delFs
c.2delA
Surrounding Variants
1 paper
NM_002418.3
p.M1R
c.2T>G
1 paper
NM_002418.3
p.M1T
c.2T>C
1 paper
NM_002418.3
p.M1K
c.2T>A
1 paper
NM_002418.3
p.V2E
c.5T>A
2 papers
NM_002418.3
p.M1L
c.1A>T
1 paper
NM_002418.3
p.M1V
c.1A>G
2 papers
NM_002418.3
p.M1L
c.1A>C
1 paper
NM_002418.3
p.S3S
c.9C>T
1 paper
NM_002418.3
p.R4R
c.12T>C
1 paper
NM_002418.3
p.R4R
c.12T>A
1 paper
NM_002418.3
p.K5N
c.15G>T
1 paper
NM_002418.3
p.K5insFs
c.14dupA
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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."