Varaico: Literature-Extracted Genetic Variants

Gene:MLN
Variant:p.E67K

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.E67K
c.199G>A
Surrounding Variants
1 paper
NM_002418.3
p.A66A
c.198G>A
1 paper
NM_002418.3
p.E67A
c.200A>C
1 paper
NM_002418.3
p.I69F
c.205A>T
2 papers
NM_002418.3
p.I69N
c.206T>A
2 papers
NM_002418.3
p.V63E
c.188T>A
1 paper
NM_002418.3
p.V63L
c.187G>T
1 paper
NM_002418.3
p.E71K
c.211G>A
1 paper
NM_002418.3
p.E71A
c.212A>C
1 paper
NM_002418.3
p.P62insFs
c.185_186insA
1 paper
NM_002418.3
p.G61delFs
c.183delA
1 paper
NM_002418.3
p.G61G
c.183T>A
1 paper
NM_002418.3
p.E72E
c.216A>G
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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."