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

2 papers

NM_007050.6

p.A413V

c.1238C>T

Surrounding Variants

1 paper

NM_007050.6

p.Y412F

c.1235A>T

1 paper

NM_007050.6

p.R416L

c.1247G>T

1 paper

NM_007050.6

p.R416H

c.1247G>A

1 paper

NM_007050.6

p.P409fs

c.1225_1226fs

1 paper

NM_007050.6

p.E408K

c.1222G>A

1 paper

NM_007050.6

p.Y420C

c.1259A>G

1 paper

NM_007050.6

p.N421D

c.1261A>G

1 paper

NM_007050.6

p.L403M

c.1207C>A

1 paper

NM_007050.6

p.V424M

c.1270G>A

1 paper

NM_007050.6

p.Q425K

c.1273C>A

1 paper

NM_007050.6

p.R401Q

c.1202G>A

1 paper

NM_007050.6

p.Q425L

c.1274A>T