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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XRN2

Variant:p.Y918D

XRN2

73 papers

RefSeq Summary

This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isofo...

Pfam Domains

XRN_Naa 1–254UCSCXRN 5'-3' exonuclease N-terminus

XRN_Maa 325–786UCSCXrn1 helical domain

Gene Aliases

HGNC Name

5'-3' exoribonuclease 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:21386971 T>G

NM_012255.5

p.Y918D

c.2752T>G

exact variant not in gnomAD8 overlapping SVs

Surrounding Variants

2 papers

chr20:21386992 C>T

NM_012255.5

p.R925C

c.2773C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

1 paper

chr20:21386993 G>A

NM_012255.5

p.R925H

c.2774G>A

Exome: 0.0% (AC=102, hom=0)Genome: 0.0% (AC=10, hom=0)8 overlapping SVs

1 paper

chr20:21386891 T>C

NM_012255.5

p.L891P

c.2672T>C

exact variant not in gnomAD8 overlapping SVs

1 paper

chr20:21389322 G>A

NM_012255.5

p.R946K

c.2837G>A

exact variant not in gnomAD8 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."