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

1–12 of 567 variants

8 papers

NM_007050.6

p.A29P

c.85G>C

7 papers

NM_007050.6

p.R328C

c.982C>T

6 papers

NM_007050.6

p.L695F

c.2083C>T

5 papers

NM_007050.6

p.E548K

c.1642G>A

4 papers

NM_007050.6

p.M76V

c.226A>G

4 papers

NM_007050.6

p.E181K

c.541G>A

4 papers

NM_007050.6

p.E324K

c.970G>A

4 papers

NM_007050.6

p.V396I

c.1186G>A

4 papers

NM_007050.6

p.E468K

c.1402G>A

4 papers

NM_007050.6

p.T565N

c.1694C>A

4 papers

NM_007050.6

p.R721C

c.2161C>T

4 papers

NM_007050.6

p.F1407L

c.4219T>C