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.A119V

c.356C>T

Surrounding Variants

1 paper

NM_007050.6

p.S115C

c.344C>G

1 paper

NM_007050.6

p.V124M

c.370G>A

1 paper

NM_007050.6

p.R112H

c.335G>A

1 paper

NM_007050.6

p.N127D

c.379A>G

1 paper

NM_007050.6

p.N127K

c.381T>A

1 paper

NM_007050.6

p.S110C

c.329C>G

1 paper

NM_007050.6

p.P130H

c.389C>A

1 paper

NM_007050.6

p.D104N

c.310G>A

1 paper

NM_007050.6

p.I103I

c.309C>T

1 paper

NM_007050.6

p.I103L

c.307A>C

1 paper

NM_007050.6

p.W136L

c.407G>T

2 papers

NM_007050.6

p.H101R

c.302A>G