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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE2T

UBE2T

66 papers

RefSeq Summary

The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two tra...

Pfam Domains

UQ_conaa 6–147UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 T

HGNC Alias Symbols

HSPC150; FANCT

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 37 variants

7 papers

chr1:202335751 G>C

NM_014176.4

p.Q2E

c.4C>G

Exome: 0.0% (AC=4, hom=0)Genome: n/a155 overlapping SVs

4 papers

chr1:202333463 T>C

NM_014176.4

p.K91R

c.272A>G

UQ_con

Exome: 0.0% (AC=2, hom=0)Genome: n/a154 overlapping SVs

2 papers

chr1:202335740 T>C

NM_014176.4

p.S5S

c.15A>G

Exome: 48.6% (AC=710579, hom=176361)Genome: 46.8% (AC=71008, hom=17043)155 overlapping SVs

2 papers

chr1:202335645 C>T

NM_014176.4

p.Q37Splc

c.109+1G>A

UQ_con

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=2, hom=0)155 overlapping SVs

2 papers

chr1:202335058 TT>N

NM_014176.4

p.Q37fs

c.109_110fs

UQ_con

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:202335753 A>T

NM_014176.4

p.M1K

c.2T>A

exact variant not in gnomAD155 overlapping SVs

1 paper

chr1:202335739 G>A

NM_014176.4

p.R6C

c.16C>T

UQ_con

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=2, hom=0)155 overlapping SVs

1 paper

chr1:202335738 C>T

NM_014176.4

p.R6H

c.17G>A

UQ_con

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)155 overlapping SVs

1 paper

chr1:202335661 C>A

NM_014176.4

p.D32Y

c.94G>T

UQ_con

exact variant not in gnomAD155 overlapping SVs

1 paper

chr1:202335652 G>A

NM_014176.4

p.R35*

c.103C>T

UQ_con

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=3, hom=0)155 overlapping SVs

1 paper

chr1:202335649 C>T

NM_014176.4

p.A36T

c.106G>A

UQ_con

Exome: 0.0% (AC=568, hom=0)Genome: 0.0% (AC=39, hom=0)155 overlapping SVs

1 paper

chr1:202335037 G>A

NM_014176.4

p.T44I

c.131C>T

UQ_con

exact variant not in gnomAD154 overlapping SVs

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