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.Y268*

c.804T>G

Surrounding Variants

2 papers

NM_002844.4

p.Y268*

c.804T>A

1 paper

NM_002844.4

p.S254P

c.760T>C

1 paper

NM_002844.4

p.A253T

c.757G>A

1 paper

NM_002844.4

p.R249*

c.745A>T

1 paper

NM_002844.4

p.R289S

c.867A>T

1 paper

NM_002844.4

p.I246N

c.737T>A

1 paper

NM_002844.4

p.V240L

c.718G>T

1 paper

NM_002844.4

p.V240L

c.718G>C