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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UCKL1

Variant:p.M1fs

UCKL1

26 papers

RefSeq Summary

The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear anti...

Pfam Domains

PRKaa 100–288UCSCPhosphoribulokinase / Uridine kinase family

UPRTaseaa 326–532UCSCUracil phosphoribosyltransferase

Gene Aliases

HGNC Name

uridine-cytidine kinase 1 like 1

HGNC Previous Symbol

URKL1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:63956372 CAT>N

NM_017859.4

p.M1fs

c.1_2fs

exact variant not in gnomAD4 overlapping SVs

Surrounding Variants

1 paper

chr20:63956368 G>T

NM_017859.4

p.A2D

c.5C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr20:63946593 C>T

NM_017859.4

p.R55H

c.164G>A

Exome: 0.0% (AC=199, hom=0)Genome: 0.0% (AC=6, hom=0)5 overlapping SVs

1 paper

chr20:63946548 G>A

NM_017859.4

p.P70L

c.209C>T

Exome: n/aGenome: 0.0% (AC=1, hom=0)5 overlapping SVs

1 paper

chr20:63946503 G>A

NM_017859.4

p.P85L

c.254C>T

Exome: 0.0% (AC=168, hom=1)Genome: 0.0% (AC=26, hom=0)5 overlapping SVs

1 paper

chr20:63946479 G>A

NM_017859.4

p.T93M

c.278C>T

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=10, hom=0)5 overlapping SVs

1 paper

chr20:63946478 C>T

NM_017859.4

p.T93T

c.279G>A

Exome: 0.0% (AC=109, hom=0)Genome: 0.0% (AC=9, hom=0)5 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."