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.A230A

c.690G>T

Surrounding Variants

1 paper

NM_133178.4

p.A230A

c.690G>A

1 paper

NM_133178.4

p.A230T

c.688G>A

1 paper

NM_133178.4

p.R243L

c.728G>T

1 paper

NM_133178.4

p.S255R

c.763A>C

1 paper

NM_133178.4

p.S255R

c.765C>A

1 paper

NM_133178.4

p.S255R

c.765C>G

1 paper

NM_133178.4

p.V274F

c.820G>T

1 paper

NM_133178.4

p.F208L

c.624C>A

1 paper

NM_133178.4

p.F208L

c.624C>G

1 paper

NM_133178.4

p.F208L

c.622T>C

1 paper

NM_133178.4

p.S207S

c.621G>A

1 paper

NM_133178.4

p.N205N

c.615C>T