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

4 papers

NM_002844.4

p.R784H

c.2351G>A

Surrounding Variants

1 paper

NM_002844.4

p.R792delFs

c.2376delC

1 paper

NM_002844.4

p.E794ins1

c.2381_2382insAAT

1 paper

NM_002844.4

p.H797N

c.2389C>A

1 paper

NM_002844.4

p.P830L

c.2489C>T

1 paper

NM_002844.4

p.R831K

c.2492G>A

1 paper

NM_002844.4

p.S778Splc

c.2333+69C>T

1 paper

NM_002844.4

p.K777*

c.2329A>T

1 paper

NM_002844.4

p.L762F

c.2286G>T

1 paper

NM_002844.4

p.L762F

c.2286G>C

1 paper

NM_002844.4

p.G756R

c.2266G>C

1 paper

NM_002844.4

p.G756R

c.2266G>A

1 paper

NM_002844.4

p.A745T

c.2233G>A