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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NT5DC1

Variant:p.A164V

NT5DC1

25 papers

RefSeq Summary

While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010].

Pfam Domains

5_nucleotidaa 1–372UCSC5' nucleotidase family

Gene Aliases

HGNC Name

5'-nucleotidase domain containing 1

HGNC Previous Symbol

NT5C2L1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:116117907 C>T

NM_152729.3

p.A164V

c.491C>T

5_nucleotid

exact variant not in gnomAD92 overlapping SVs

Surrounding Variants

1 paper

chr6:116117902 A>G

NM_152729.3

p.I162M

c.486A>G

5_nucleotid

Exome: 0.0% (AC=0, hom=0)Genome: n/a92 overlapping SVs

1 paper

chr6:116117922 A>G

NM_152729.3

p.N169S

c.506A>G

5_nucleotid

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=1, hom=0)92 overlapping SVs

1 paper

chr6:116117868 A>G

NM_152729.3

p.N151S

c.452A>G

5_nucleotid

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=12, hom=0)92 overlapping SVs

1 paper

chr6:116115755 G>A

NM_152729.3

p.V143V

c.429G>A

5_nucleotid

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=3, hom=0)92 overlapping SVs

1 paper

chr6:116120969 C>T

NM_152729.3

p.E177Splc

c.529+3024C>T

Exome: 0.0% (AC=179, hom=0)Genome: 0.0% (AC=40, hom=1)93 overlapping SVs

1 paper

chr6:116121839 C>T

NM_152729.3

p.E177Splc

c.529+3894C>T

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)92 overlapping SVs

1 paper

chr6:116108429 T>C

NM_152729.3

p.V84A

c.251T>C

5_nucleotid

Exome: 0.0% (AC=0, hom=0)Genome: n/a92 overlapping SVs

1 paper

chr6:116108428 G>A

NM_152729.3

p.V84I

c.250G>A

5_nucleotid

Exome: 0.0% (AC=94, hom=0)Genome: 0.0% (AC=6, hom=0)92 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."