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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIGAR

Variant:p.Q64_T65Splc

TIGAR

68 papers

RefSeq Summary

This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphos...

Pfam Domains

His_Phos_1aa 6–150UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

TP53 induced glycolysis regulatory phosphatase

HGNC Previous Name

chromosome 12 open reading frame 5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:4337162 T>C

NM_020375.3

p.Q64_T65Splc

c.192+2T>C

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

1 paper

chr12:4337135 C>G

NM_020375.3

p.S56C

c.167C>G

His_Phos_1

exact variant not in gnomAD7 overlapping SVs

1 paper

chr12:4337059 C>T

NM_020375.3

p.L31F

c.91C>T

His_Phos_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr12:4337054 A>T

NM_020375.3

p.E29V

c.86A>T

His_Phos_1

Exome: 0.0% (AC=87, hom=0)Genome: 0.0% (AC=16, hom=0)7 overlapping SVs

1 paper

chr12:4337040 A>G

NM_020375.3

p.G24G

c.72A>G

His_Phos_1

Exome: n/aGenome: 0.0% (AC=0, hom=0)7 overlapping SVs

1 paper

chr12:4331315 A>G

NM_020375.3

p.Q23R

c.68A>G

His_Phos_1

exact variant not in gnomAD6 overlapping SVs

1 paper

chr12:4331282 G>C

NM_020375.3

p.G12A

c.35G>C

His_Phos_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr12:4331282 G>T

NM_020375.3

p.G12V

c.35G>T

His_Phos_1

exact variant not in gnomAD6 overlapping SVs

1 paper

chr12:4331281 G>A

NM_020375.3

p.G12R

c.34G>A

His_Phos_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr12:4331281 G>C

NM_020375.3

p.G12R

c.34G>C

His_Phos_1

exact variant not in gnomAD6 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."