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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:QRFP

Variant:p.R48*

QRFP

13 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. The encoded products are members of the RFamide family of neuropeptides, characterized by the...

Pfam Domains

RFamide_26RFaaa 5–135UCSCOrexigenic neuropeptide Qrfp/P518

Gene Aliases

HGNC Name

pyroglutamylated RFamide peptide

HGNC Alias Symbols

26RFa; P518; prepro-26RFa

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr9:130893697 G>A

NM_198180.3

p.R48*

c.142C>T

RFamide_26RFa

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=5, hom=0)9 overlapping SVs

Surrounding Variants

1 paper

chr9:130893699 G>A

NM_198180.3

p.P47L

c.140C>T

RFamide_26RFa

Exome: 0.0% (AC=302, hom=1)Genome: 0.2% (AC=321, hom=2)9 overlapping SVs

1 paper

chr9:130893685 C>T

NM_198180.3

p.V52M

c.154G>A

RFamide_26RFa

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr9:130893778 GAGGGAA>G

NM_198180.3

p.F19_P20del2

c.55_59del6

RFamide_26RFa

exact variant not in gnomAD9 overlapping SVs

2 papers

chr9:130893579 C>T

NM_198180.3

p.R87H

c.260G>A

RFamide_26RFa

Exome: 1.0% (AC=14092, hom=86)Genome: 0.7% (AC=1042, hom=4)9 overlapping SVs

1 paper

chr9:130893818 C>CN

NM_198180.3

p.L7fs

c.19_20fs

RFamide_26RFa

exact variant not in gnomAD9 overlapping SVs

1 paper

chr9:130893818 CAG>C

NM_198180.3

p.L7delFs

c.19_20delAG

RFamide_26RFa

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr9:130893562 C>T

NM_198180.3

p.E93K

c.277G>A

RFamide_26RFa

Exome: 0.0% (AC=105, hom=2)Genome: 0.0% (AC=19, hom=0)9 overlapping SVs

1 paper

chr9:130893481 T>G

NM_198180.3

p.N120H

c.358A>C

RFamide_26RFa

Exome: 0.0% (AC=6, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr9:130893457 C>T

NM_198180.3

p.G128S

c.382G>A

RFamide_26RFa

Exome: 0.0% (AC=171, hom=1)Genome: 0.0% (AC=11, hom=0)9 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."