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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTNR1B

MTNR1B

106 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 gene product is an integral membrane protein that is a G-protein co...

Pfam Domains

7tm_1aa 57–308UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melatonin receptor 1B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 309 variants

14 papers

chr11:92969796 G>A

NM_005959.5

p.G24E

c.71G>A

Exome: 7.8% (AC=110307, hom=4732)Genome: 7.3% (AC=11093, hom=496)33 overlapping SVs

12 papers

chr11:92981635 C>T

NM_005959.5

p.R138C

c.412C>T

7tm_1

Exome: 0.1% (AC=1973, hom=4)Genome: 0.1% (AC=120, hom=0)32 overlapping SVs

11 papers

chr11:92981593 G>A

NM_005959.5

p.V124I

c.370G>A

7tm_1

Exome: 0.1% (AC=1677, hom=3)Genome: 0.1% (AC=129, hom=0)32 overlapping SVs

9 papers

chr11:92981915 G>A

NM_005959.5

p.R231H

c.692G>A

7tm_1

Exome: 0.6% (AC=9293, hom=33)Genome: 0.4% (AC=595, hom=2)32 overlapping SVs

8 papers

chr11:92981636 G>A

NM_005959.5

p.R138H

c.413G>A

7tm_1

Exome: 0.0% (AC=98, hom=0)Genome: 0.0% (AC=6, hom=0)32 overlapping SVs

8 papers

chr11:92981888 G>A

NM_005959.5

p.R222H

c.665G>A

7tm_1

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)32 overlapping SVs

8 papers

chr11:92981951 A>G

NM_005959.5

p.K243R

c.728A>G

7tm_1

Exome: 3.3% (AC=47627, hom=1770)Genome: 8.7% (AC=13185, hom=1227)32 overlapping SVs

7 papers

chr11:92969879 G>A

NM_005959.5

p.A52T

c.154G>A

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=4, hom=0)33 overlapping SVs

7 papers

chr11:92969904 T>G

NM_005959.5

p.L60R

c.179T>G

7tm_1

Exome: 0.0% (AC=552, hom=0)Genome: 0.0% (AC=49, hom=0)33 overlapping SVs

7 papers

chr11:92981636 G>T

NM_005959.5

p.R138L

c.413G>T

7tm_1

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)32 overlapping SVs

7 papers

chr11:92982170 G>A

NM_005959.5

p.R316H

c.947G>A

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=1, hom=0)32 overlapping SVs

7 papers

chr11:92982281 T>C

NM_005959.5

p.I353T

c.1058T>C

Exome: 0.1% (AC=787, hom=1)Genome: 0.1% (AC=78, hom=0)32 overlapping SVs

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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."