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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TET1

TET1

435 papers

RefSeq Summary

DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) famil...

Pfam Domains

zf-CXXCaa 584–624UCSCCXXC zinc finger domain

Tet_JBPaa 1580–2052UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 1

HGNC Previous Symbol

CXXC6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 566 variants

22 papers

chr10:68572823 A>G

NM_030625.3

p.D162G

c.485A>G

Exome: 37.3% (AC=545797, hom=105128)Genome: 28.6% (AC=43445, hom=7659)34 overlapping SVs

21 papers

chr10:68646098 A>G

NM_030625.3

p.I1123M

c.3369A>G

Exome: 81.0% (AC=1183593, hom=482058)Genome: 72.1% (AC=109626, hom=41118)32 overlapping SVs

12 papers

chr10:68572915 T>A

NM_030625.3

p.S193T

c.577T>A

Exome: 16.6% (AC=242104, hom=21108)Genome: 15.5% (AC=23570, hom=1997)34 overlapping SVs

10 papers

chr10:68573105 C>T

NM_030625.3

p.A256V

c.767C>T

Exome: 9.1% (AC=132682, hom=7577)Genome: 7.6% (AC=11637, hom=712)34 overlapping SVs

10 papers

chr10:68645782 A>G

NM_030625.3

p.N1018S

c.3053A>G

Exome: 8.5% (AC=123666, hom=6504)Genome: 7.3% (AC=11167, hom=641)32 overlapping SVs

6 papers

chr10:68573798 C>T

NM_030625.3

p.S487L

c.1460C>T

Exome: 0.1% (AC=1685, hom=31)Genome: 0.2% (AC=332, hom=6)34 overlapping SVs

5 papers

chr10:68573360 C>T

NM_030625.3

p.A341V

c.1022C>T

Exome: 0.1% (AC=1146, hom=1)Genome: 0.0% (AC=76, hom=1)34 overlapping SVs

5 papers

chr10:68644776 C>G

NM_030625.3

p.Q683E

c.2047C>G

Exome: 0.2% (AC=2565, hom=7)Genome: 0.1% (AC=182, hom=0)32 overlapping SVs

5 papers

chr10:68644831 G>A

NM_030625.3

p.S701N

c.2102G>A

Exome: 0.8% (AC=11612, hom=89)Genome: 0.6% (AC=962, hom=5)32 overlapping SVs

5 papers

chr10:68690907 C>T

NM_030625.3

p.P1835L

c.5504C>T

Tet_JBP

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=5, hom=0)31 overlapping SVs

4 papers

chr10:68572597 A>T

NM_030625.3

p.T87S

c.259A>T

exact variant not in gnomAD34 overlapping SVs

4 papers

chr10:68572598 C>G

NM_030625.3

p.T87S

c.260C>G

Exome: 0.1% (AC=1798, hom=4)Genome: 0.1% (AC=199, hom=2)34 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."