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

4 papers

NM_007050.6

p.E181K

c.541G>A

Surrounding Variants

2 papers

NM_007050.6

p.R183Q

c.548G>A

1 paper

NM_007050.6

p.V184F

c.550G>T

1 paper

NM_007050.6

p.A178T

c.532G>A

1 paper

NM_007050.6

p.G175fs

c.523_524fs

1 paper

NM_007050.6

p.G175delFs

c.524delC

1 paper

NM_007050.6

p.R190Splc

c.568+1G>T

1 paper

NM_007050.6

p.V168I

c.502G>A

1 paper

NM_007050.6

p.H194P

c.581A>C

1 paper

NM_007050.6

p.F195F

c.585T>C

2 papers

NM_007050.6

p.R197*

c.589C>T

1 paper

NM_007050.6

p.Q199R

c.596A>G

1 paper

NM_007050.6

p.V201A

c.602T>C