Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FPR1

FPR1

146 papers

RefSeq Summary

This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invas...

Pfam Domains

7tm_1aa 43–301UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

formyl peptide receptor 1

HGNC Alias Symbol

FMLP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 161 variants

15 papers

chr19:51745958 T>G

NM_002029.4

p.E346A

c.1037A>C

Exome: 80.2% (AC=1168580, hom=469235)Genome: 79.6% (AC=120992, hom=48125)9 overlapping SVs

13 papers

chr19:51746694 C>G

NM_002029.4

p.V101L

c.301G>C

7tm_1

Exome: 37.2% (AC=544174, hom=103905)Genome: 37.0% (AC=56221, hom=10673)9 overlapping SVs

13 papers

chr19:51746427 T>A

NM_002029.4

p.R190W

c.568A>T

7tm_1

Exome: 13.0% (AC=189986, hom=13006)Genome: 12.1% (AC=18409, hom=1176)9 overlapping SVs

13 papers

chr19:51746419 A>C

NM_002029.4

p.N192K

c.576T>G

7tm_1

Exome: 33.1% (AC=484143, hom=81572)Genome: 36.2% (AC=54982, hom=10311)9 overlapping SVs

11 papers

chr19:51746666 A>G

NM_002029.4

p.F110S

c.329T>C

7tm_1

exact variant not in gnomAD9 overlapping SVs

11 papers

chr19:51746419 A>T

NM_002029.4

p.N192K

c.576T>A

7tm_1

exact variant not in gnomAD9 overlapping SVs

10 papers

chr19:51746617 G>C

NM_002029.4

p.C126W

c.378C>G

7tm_1

exact variant not in gnomAD9 overlapping SVs

10 papers

chr19:51746449 G>T

NM_002029.4

p.P182P

c.546C>A

7tm_1

Exome: 29.9% (AC=437211, hom=67631)Genome: 30.8% (AC=46797, hom=7316)9 overlapping SVs

7 papers

chr19:51746706 G>T

NM_002029.4

p.L97M

c.289C>A

7tm_1

Exome: 0.4% (AC=5968, hom=161)Genome: 0.5% (AC=701, hom=14)9 overlapping SVs

6 papers

chr19:51746963 A>G

NM_002029.4

p.I11T

c.32T>C

Exome: 78.3% (AC=1144305, hom=449322)Genome: 79.0% (AC=120039, hom=47477)9 overlapping SVs

6 papers

chr19:51746689 A>G

NM_002029.4

p.F102F

c.306T>C

7tm_1

Exome: 4.0% (AC=58246, hom=1491)Genome: 3.0% (AC=4591, hom=109)9 overlapping SVs

5 papers

chr19:51746783 T>G

NM_002029.4

p.D71A

c.212A>C

7tm_1

exact variant not in gnomAD9 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."