Varaico: Literature-Extracted Genetic Variants

Gene:PMCH
Variant:p.Q164P

PMCH

74 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleu...

Pfam Domains

Pro-MCHaa 82–165UCSCPro-melanin-concentrating hormone (Pro-MCH)

Gene Aliases

HGNC Name

pro-melanin concentrating hormone

HGNC Alias Symbol

MCH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002674.4
p.Q164P
c.491A>C
Surrounding Variants
1 paper
NM_002674.4
p.Q164*
c.490C>T
1 paper
NM_002674.4
p.C153*
c.459T>A
2 papers
NM_002674.4
p.M150Splc
c.449-1G>A
1 paper
NM_002674.4
p.F141delFs
c.421_422delAA
1 paper
NM_002674.4
p.E128G
c.383A>G
1 paper
NM_002674.4
p.Q121*
c.361C>T
1 paper
NM_002674.4
p.N118K
c.354T>G
1 paper
NM_002674.4
p.N118K
c.354T>A
1 paper
NM_002674.4
p.A116T
c.346G>A
1 paper
NM_002674.4
p.P104delFs
c.312delA
1 paper
NM_002674.4
p.I102M
c.306A>G
1 paper
NM_002674.4
p.I102T
c.305T>C
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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."