Varaico: Literature-Extracted Genetic Variants

PTPRU

131 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

MAMaa 27–187UCSCMAM domain, meprin/A5/mu

fn3aa 486–585UCSCFibronectin type III domain

Fn3_PTPRUaa 586–730UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Y_phosphataseaa 913–1143UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 1203–1438UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type U

HGNC Alias Symbols

hPTP-J; PCP-2; FMI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133178.4

p.H856Y

c.2566C>T

Surrounding Variants

1 paper

NM_133178.4

p.Y855*

c.2565C>A

1 paper

NM_133178.4

p.Y855*

c.2565C>G

1 paper

NM_133178.4

p.Y855Y

c.2565C>T

1 paper

NM_133178.4

p.R850W

c.2548C>T

2 papers

NM_133178.4

p.P844L

c.2531C>T

1 paper

NM_133178.4

p.T878M

c.2633C>T

1 paper

NM_133178.4

p.V833F

c.2497G>T

1 paper

NM_133178.4

p.R829C

c.2485C>T

1 paper

NM_133178.4

p.G826Splc

c.2477-30A>C

1 paper

NM_133178.4

p.R919Q

c.2756G>A

1 paper

NM_133178.4

p.D928E

c.2784C>A

6 papers

NM_133178.4

p.N930S

c.2789A>G