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

4 papers

NM_007050.6

p.F1407L

c.4219T>C

Surrounding Variants

4 papers

NM_007050.6

p.F1407L

c.4221C>G

4 papers

NM_007050.6

p.F1407L

c.4221C>A

1 paper

NM_007050.6

p.H1408L

c.4223A>T

1 paper

NM_007050.6

p.T1412P

c.4234A>C

1 paper

NM_007050.6

p.E1396D

c.4188G>T

1 paper

NM_007050.6

p.E1396D

c.4188G>C

1 paper

NM_007050.6

p.E1396V

c.4187A>T

1 paper

NM_007050.6

p.G1386*

c.4156G>T

3 papers

NM_007050.6

p.R1384H

c.4151G>A

1 paper

NM_007050.6

p.G1383V

c.4148G>T

1 paper

NM_007050.6

p.G1383A

c.4148G>C

1 paper

NM_007050.6

p.N1380Y

c.4138A>T