Varaico: Literature-Extracted Genetic Variants

PTPRK

151 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 36–193UCSCMAM domain, meprin/A5/mu

I-setaa 196–288UCSCImmunoglobulin I-set domain

fn3aa 492–589UCSCFibronectin type III domain

Fn3_PTPRUaa 590–735UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Y_phosphataseaa 910–1140UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 1200–1434UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type K

HGNC Alias Symbol

R-PTP-kappa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002844.4

p.S533*

c.1598C>A

Surrounding Variants

2 papers

NM_002844.4

p.S533*

c.1598C>G

1 paper

NM_002844.4

p.V538V

c.1614T>C

1 paper

NM_002844.4

p.P544H

c.1631C>A

1 paper

NM_002844.4

p.M559I

c.1677G>T

1 paper

NM_002844.4

p.M559I

c.1677G>C

1 paper

NM_002844.4

p.M559I

c.1677G>A

2 papers

NM_002844.4

p.G564R

c.1690G>C

2 papers

NM_002844.4

p.G564R

c.1690G>A

1 paper

NM_002844.4

p.G564_T565delFs

c.1690_1693del4

1 paper

NM_002844.4

p.T566M

c.1697C>T

1 paper

NM_002844.4

p.G578G

c.1734C>T

1 paper

NM_002844.4

p.N590_I591del1

c.1769_1771delTAT