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

1–12 of 204 variants

4 papers

NM_002844.4

p.R784H

c.2351G>A

3 papers

NM_002844.4

p.V493I

c.1477G>A

2 papers

NM_002844.4

p.Y268*

c.804T>G

2 papers

NM_002844.4

p.Y268*

c.804T>A

2 papers

NM_002844.4

p.E358K

c.1072G>A

2 papers

NM_002844.4

p.R362*

c.1084C>T

2 papers

NM_002844.4

p.S533*

c.1598C>G

2 papers

NM_002844.4

p.S533*

c.1598C>A

2 papers

NM_002844.4

p.G564R

c.1690G>C

2 papers

NM_002844.4

p.G564R

c.1690G>A

2 papers

NM_002844.4

p.E608*

c.1822G>T

2 papers

NM_002844.4

p.M880L

c.2638A>T