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.I339T

c.1016T>C

Surrounding Variants

1 paper

NM_007050.6

p.H338Y

c.1012C>T

2 papers

NM_007050.6

p.D341N

c.1021G>A

1 paper

NM_007050.6

p.W334*

c.1001G>A

1 paper

NM_007050.6

p.N344K

c.1032C>A

1 paper

NM_007050.6

p.G332S

c.994G>A

2 papers

NM_007050.6

p.R328H

c.983G>A

7 papers

NM_007050.6

p.R328C

c.982C>T

1 paper

NM_007050.6

p.D351N

c.1051G>A

1 paper

NM_007050.6

p.P352T

c.1054C>A

1 paper

NM_007050.6

p.P352L

c.1055C>T

1 paper

NM_007050.6

p.E326K

c.976G>A

1 paper

NM_007050.6

p.D353N

c.1057G>A