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.Q199R

c.596A>G

Surrounding Variants

1 paper

NM_007050.6

p.V201A

c.602T>C

2 papers

NM_007050.6

p.R197*

c.589C>T

1 paper

NM_007050.6

p.F195F

c.585T>C

1 paper

NM_007050.6

p.H194P

c.581A>C

1 paper

NM_007050.6

p.Q207K

c.619C>A

1 paper

NM_007050.6

p.Q207H

c.621G>T

1 paper

NM_007050.6

p.Q207H

c.621G>C

1 paper

NM_007050.6

p.A209T

c.625G>A

1 paper

NM_007050.6

p.G216A

c.647G>C

2 papers

NM_007050.6

p.K218T

c.653A>C

1 paper

NM_007050.6

p.L225F

c.673C>T

1 paper

NM_007050.6

p.Q228H

c.684G>T