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.R362*

c.1084C>T

Surrounding Variants

1 paper

NM_002844.4

p.R362Q

c.1085G>A

2 papers

NM_002844.4

p.E358K

c.1072G>A

1 paper

NM_002844.4

p.W351G

c.1051T>G

1 paper

NM_002844.4

p.T373A

c.1117A>G

1 paper

NM_002844.4

p.L350*

c.1049T>G

1 paper

NM_002844.4

p.L350*

c.1049T>A

1 paper

NM_002844.4

p.L375F

c.1123C>T

1 paper

NM_002844.4

p.P346L

c.1037C>T

1 paper

NM_002844.4

p.L380Q

c.1139T>A

1 paper

NM_002844.4

p.S334L

c.1001C>T

1 paper

NM_002844.4

p.E329Q

c.985G>C

1 paper

NM_002844.4

p.I323F

c.967A>T