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.W146C

c.438G>C

Surrounding Variants

1 paper

NM_007050.6

p.W146C

c.438G>T

1 paper

NM_007050.6

p.W146*

c.438G>A

1 paper

NM_007050.6

p.W146*

c.437G>A

1 paper

NM_007050.6

p.K148E

c.442A>G

1 paper

NM_007050.6

p.G145C

c.433G>T

1 paper

NM_007050.6

p.K148N

c.444G>T

1 paper

NM_007050.6

p.K148N

c.444G>C

3 papers

NM_007050.6

p.V142I

c.424G>A

1 paper

NM_007050.6

p.V141fs

c.421_422fs

1 paper

NM_007050.6

p.A152S

c.454G>T

1 paper

NM_007050.6

p.F156L

c.466T>C

1 paper

NM_007050.6

p.N137S

c.410A>G