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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MC1R

MC1R

1,094 papers

RefSeq Summary

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two type...

Pfam Domains

7tm_1aa 55–188UCSC7 transmembrane receptor (rhodopsin family)

7tm_1aa 181–298UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 1 receptor

HGNC Alias Symbol

MSH-R

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 1074 variants

507 papers

chr16:89919709 C>T

NM_002386.4

p.R151C

c.451C>T

7tm_1

Exome: 7.8% (AC=113202, hom=5550)Genome: 4.6% (AC=7045, hom=229)6 overlapping SVs

482 papers

chr16:89919736 C>T

NM_002386.4

p.R160W

c.478C>T

7tm_1

Exome: 7.1% (AC=102907, hom=4361)Genome: 4.6% (AC=7052, hom=207)6 overlapping SVs

442 papers

chr16:89920138 G>C

NM_002386.4

p.D294H

c.880G>C

7tm_1

Exome: 1.9% (AC=27485, hom=338)Genome: 1.1% (AC=1658, hom=28)7 overlapping SVs

348 papers

chr16:89919532 G>A

NM_002386.4

p.V92M

c.274G>A

7tm_1

Exome: 8.7% (AC=127110, hom=6590)Genome: 6.6% (AC=10108, hom=554)6 overlapping SVs

326 papers

chr16:89919436 G>T

NM_002386.4

p.V60L

c.178G>T

7tm_1

Exome: 10.9% (AC=159401, hom=10454)Genome: 8.0% (AC=12226, hom=782)6 overlapping SVs

322 papers

chr16:89919436 G>C

NM_002386.4

p.V60L

c.178G>C

7tm_1

exact variant not in gnomAD6 overlapping SVs

303 papers

chr16:89919746 G>A

NM_002386.4

p.R163Q

c.488G>A

7tm_1

Exome: 8.2% (AC=118637, hom=16986)Genome: 9.1% (AC=13896, hom=2038)6 overlapping SVs

294 papers

chr16:89919510 C>A

NM_002386.4

p.D84E

c.252C>A

7tm_1

Exome: 1.0% (AC=14484, hom=98)Genome: 0.5% (AC=811, hom=2)6 overlapping SVs

294 papers

chr16:89919510 C>G

NM_002386.4

p.D84E

c.252C>G

7tm_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

275 papers

chr16:89919683 G>A

NM_002386.4

p.R142H

c.425G>A

7tm_1

Exome: 0.6% (AC=9385, hom=47)Genome: 0.5% (AC=716, hom=1)6 overlapping SVs

208 papers

chr16:89919722 T>C

NM_002386.4

p.I155T

c.464T>C

7tm_1

Exome: 1.0% (AC=14089, hom=99)Genome: 0.7% (AC=1008, hom=3)6 overlapping SVs

56 papers

chr16:89919714 C>A

NM_002386.4

p.Y152*

c.456C>A

7tm_1

Exome: 0.1% (AC=784, hom=5)Genome: 0.1% (AC=83, hom=0)6 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."