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.L552L

c.1656C>A

Surrounding Variants

1 paper

NM_007050.6

p.L552F

c.1654C>T

1 paper

NM_007050.6

p.H550H

c.1650C>T

2 papers

NM_007050.6

p.E548G

c.1643A>G

5 papers

NM_007050.6

p.E548K

c.1642G>A

1 paper

NM_007050.6

p.R546R

c.1638G>A

2 papers

NM_007050.6

p.R546P

c.1637G>C

1 paper

NM_007050.6

p.R546Q

c.1637G>A

1 paper

NM_007050.6

p.R546W

c.1636C>T

1 paper

NM_007050.6

p.T560A

c.1678A>G

1 paper

NM_007050.6

p.Y562C

c.1685A>G

1 paper

NM_007050.6

p.V542L

c.1624G>C

1 paper

NM_007050.6

p.S563F

c.1688C>T