Varaico: Literature-Extracted Genetic Variants

Gene:MLN
Variant:p.E42A

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.E42A
c.125A>C
Surrounding Variants
1 paper
NM_002418.3
p.E42Fs
c.125delinsTTFs
1 paper
NM_002418.3
p.K41K
c.123G>A
1 paper
NM_002418.3
p.R43P
c.128G>C
1 paper
NM_002418.3
p.K41R
c.122A>G
1 paper
NM_002418.3
p.K41*
c.121A>T
1 paper
NM_002418.3
p.N44S
c.131A>G
1 paper
NM_002418.3
p.E40G
c.119A>G
1 paper
NM_002418.3
p.N44T
c.131A>C
3 papers
NM_002418.3
p.E40K
c.118G>A
2 papers
NM_002418.3
p.K45E
c.133A>G
1 paper
NM_002418.3
p.K45R
c.134A>G
1 paper
NM_002418.3
p.Q47Fs
c.139delinsTTFs
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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."