Varaico: Literature-Extracted Genetic Variants

Gene:MLN
Variant:p.A8T

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.A8T
c.22G>A
Surrounding Variants
1 paper
NM_002418.3
p.A8S
c.22G>T
2 papers
NM_002418.3
p.A6A
c.18T>A
2 papers
NM_002418.3
p.A6V
c.17C>T
1 paper
NM_002418.3
p.A6G
c.17C>G
1 paper
NM_002418.3
p.L10insFs
c.28_29insA
1 paper
NM_002418.3
p.K5N
c.15G>T
1 paper
NM_002418.3
p.K5insFs
c.14dupA
1 paper
NM_002418.3
p.K5N
c.15G>C
2 papers
NM_002418.3
p.L11M
c.31C>A
1 paper
NM_002418.3
p.R4R
c.12T>C
1 paper
NM_002418.3
p.R4R
c.12T>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."