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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUSP1

DUSP1

98 papers

RefSeq Summary

The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in s...

Pfam Domains

Rhodaneseaa 9–131UCSCRhodanese-like domain

DSPcaa 181–311UCSCDual specificity phosphatase, catalytic domain

Gene Aliases

HGNC Name

dual specificity phosphatase 1

HGNC Previous Symbol

PTPN10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 57 variants

5 papers

chr5:172769749 A>G

NM_004417.4

p.Y187H

c.559T>C

DSPc

Exome: 3.2% (AC=47333, hom=891)Genome: 2.2% (AC=3304, hom=48)12 overlapping SVs

4 papers

chr5:172770787 C>T

NM_004417.4

p.A56T

c.166G>A

Rhodanese

Exome: 3.3% (AC=44624, hom=845)Genome: 2.2% (AC=3298, hom=47)12 overlapping SVs

4 papers

chr5:172770773 C>A

NM_004417.4

p.M60I

c.180G>T

Rhodanese

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

4 papers

chr5:172770773 C>G

NM_004417.4

p.M60I

c.180G>C

Rhodanese

Exome: 0.6% (AC=8270, hom=29)Genome: 0.4% (AC=632, hom=5)12 overlapping SVs

4 papers

chr5:172770773 C>T

NM_004417.4

p.M60I

c.180G>A

Rhodanese

exact variant not in gnomAD12 overlapping SVs

4 papers

chr5:172769094 A>T

NM_004417.4

p.C258S

c.772T>A

DSPc

exact variant not in gnomAD12 overlapping SVs

4 papers

chr5:172769093 C>G

NM_004417.4

p.C258S

c.773G>C

DSPc

exact variant not in gnomAD12 overlapping SVs

3 papers

chr5:172770897 T>A

NM_004417.4

p.E19V

c.56A>T

Rhodanese

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

3 papers

chr5:172770882 C>T

NM_004417.4

p.C24Y

c.71G>A

Rhodanese

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

3 papers

chr5:172768893 C>T

NM_004417.4

p.A325T

c.973G>A

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=8, hom=0)12 overlapping SVs

2 papers

chr5:172770855 A>C

NM_004417.4

p.F33C

c.98T>G

Rhodanese

exact variant not in gnomAD12 overlapping SVs

2 papers

chr5:172770795 C>A

NM_004417.4

p.R53L

c.158G>T

Rhodanese

Exome: 0.1% (AC=1988, hom=1)Genome: 0.1% (AC=139, hom=0)12 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."