Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUSP6

DUSP6

180 papers

RefSeq Summary

The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threo...

Pfam Domains

Rhodaneseaa 19–142UCSCRhodanese-like domain

DSPcaa 214–346UCSCDual specificity phosphatase, catalytic domain

Gene Aliases

HGNC Name

dual specificity phosphatase 6

HGNC Alias Symbols

MKP-3; PYST1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 127 variants

15 papers

chr12:89350881 G>A

NM_001946.4

p.S182F

c.545C>T

Exome: 0.1% (AC=1369, hom=0)Genome: 0.1% (AC=137, hom=1)30 overlapping SVs

9 papers

chr12:89351700 C>A

NM_001946.4

p.V114L

c.340G>T

Rhodanese

Exome: 53.2% (AC=772516, hom=207736)Genome: 47.0% (AC=71433, hom=17862)30 overlapping SVs

9 papers

chr12:89351700 C>G

NM_001946.4

p.V114L

c.340G>C

Rhodanese

exact variant not in gnomAD30 overlapping SVs

7 papers

chr12:89350996 A>C

NM_001946.4

p.S144A

c.430T>G

Exome: 19.1% (AC=278099, hom=28037)Genome: 24.2% (AC=36859, hom=5176)30 overlapping SVs

4 papers

chr12:89351811 A>T

NM_001946.4

p.F77I

c.229T>A

Rhodanese

Exome: 0.0% (AC=12, hom=0)Genome: n/a30 overlapping SVs

4 papers

chr12:89350860 T>C

NM_001946.4

p.N189S

c.566A>G

Exome: 0.0% (AC=354, hom=1)Genome: 0.0% (AC=29, hom=0)30 overlapping SVs

4 papers

chr12:89349523 A>T

NM_001946.4

p.C293S

c.877T>A

DSPc

exact variant not in gnomAD29 overlapping SVs

4 papers

chr12:89349522 C>G

NM_001946.4

p.C293S

c.878G>C

DSPc

exact variant not in gnomAD29 overlapping SVs

3 papers

chr12:89351854 C>A

NM_001946.4

p.M62I

c.186G>T

Rhodanese

exact variant not in gnomAD30 overlapping SVs

3 papers

chr12:89351854 C>G

NM_001946.4

p.M62I

c.186G>C

Rhodanese

exact variant not in gnomAD30 overlapping SVs

3 papers

chr12:89351854 C>T

NM_001946.4

p.M62I

c.186G>A

Rhodanese

exact variant not in gnomAD30 overlapping SVs

3 papers

chr12:89351780 G>A

NM_001946.4

p.T87I

c.260C>T

Rhodanese

Exome: 3.5% (AC=50468, hom=1030)Genome: 2.3% (AC=3578, hom=55)30 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."