Varaico: Literature-Extracted Genetic Variants

PTPRT

370 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 32–190UCSCMAM domain, meprin/A5/mu

fn3aa 498–584UCSCFibronectin type III domain

Fn3_PTPRUaa 585–729UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Y_phosphataseaa 931–1161UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 1221–1455UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type T

HGNC Alias Symbols

RPTPrho; KIAA0283

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007050.6

p.S73C

c.218C>G

Surrounding Variants

1 paper

NM_007050.6

p.S73F

c.218C>T

1 paper

NM_007050.6

p.F74S

c.221T>C

1 paper

NM_007050.6

p.G72Splc

c.215-1G>A

4 papers

NM_007050.6

p.M76V

c.226A>G

1 paper

NM_007050.6

p.M76I

c.228G>T

1 paper

NM_007050.6

p.M76I

c.228G>C

1 paper

NM_007050.6

p.M76I

c.228G>A

1 paper

NM_007050.6

p.G81R

c.241G>C

1 paper

NM_007050.6

p.G81R

c.241G>A

1 paper

NM_007050.6

p.R82S

c.246A>T

1 paper

NM_007050.6

p.S84Y

c.251C>A

1 paper

NM_007050.6

p.Q86H

c.258G>T