Varaico: Literature-Extracted Genetic Variants

Gene:MTNR1A

MTNR1A

64 papers

RefSeq Summary

This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is r...

Pfam Domains

7tm_1aa 44–295UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melatonin receptor 1A

HGNC Alias Symbol

MEL-1A-R

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
7 papers
NM_005958.4
p.A157V
c.470C>T
7 papers
NM_005958.4
p.G166E
c.497G>A
5 papers
NM_005958.4
p.R54W
c.160C>T
3 papers
NM_005958.4
p.G18R
c.52G>A
3 papers
NM_005958.4
p.G62Splc
c.184+1G>T
3 papers
NM_005958.4
p.I212T
c.635T>C
3 papers
NM_005958.4
p.R330W
c.988A>T
2 papers
NM_005958.4
p.V52A
c.155T>C
2 papers
NM_005958.4
p.P80L
c.239C>T
2 papers
NM_005958.4
p.P82L
c.245C>T
2 papers
NM_005958.4
p.L85L
c.253C>T
2 papers
NM_005958.4
p.S87L
c.260C>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."