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.P694T

c.2080C>A

Surrounding Variants

6 papers

NM_007050.6

p.L695F

c.2083C>T

1 paper

NM_007050.6

p.L695V

c.2083C>G

2 papers

NM_007050.6

p.W691*

c.2073G>A

2 papers

NM_007050.6

p.W691*

c.2072G>A

1 paper

NM_007050.6

p.L698delFs

c.2092delG

1 paper

NM_007050.6

p.G689G

c.2067C>A

1 paper

NM_007050.6

p.L698L

c.2094G>A

1 paper

NM_007050.6

p.A707T

c.2119G>A

1 paper

NM_007050.6

p.L708F

c.2122C>T

1 paper

NM_007050.6

p.L708P

c.2123T>C

1 paper

NM_007050.6

p.A711D

c.2132C>A

1 paper

NM_007050.6

p.N712S

c.2135A>G