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.A701T

c.2101G>A

Surrounding Variants

1 paper

NM_133178.4

p.G714R

c.2140G>A

1 paper

NM_133178.4

p.G714R

c.2140G>C

1 paper

NM_133178.4

p.Q686E

c.2056C>G

1 paper

NM_133178.4

p.G666R

c.1996G>A

1 paper

NM_133178.4

p.G666R

c.1996G>C

1 paper

NM_133178.4

p.P650L

c.1949C>T

1 paper

NM_133178.4

p.R639W

c.1915C>T

4 papers

NM_133178.4

p.R633Q

c.1898G>A

1 paper

NM_133178.4

p.R633fs

c.1897_1898fs

1 paper

NM_133178.4

p.R633W

c.1897C>T

1 paper

NM_133178.4

p.V627L

c.1879G>C

1 paper

NM_133178.4

p.V627L

c.1879G>T