Varaico: Literature-Extracted Genetic Variants

PTPRD

606 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

I-setaa 24–115UCSCImmunoglobulin I-set domain

I-setaa 126–219UCSCImmunoglobulin I-set domain

Ig_3aa 229–300UCSCImmunoglobulin domain

fn3aa 318–405UCSCFibronectin type III domain

fn3aa 413–504UCSCFibronectin type III domain

fn3aa 511–597UCSCFibronectin type III domain

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type D

HGNC Alias Symbols

PTPD; HPTP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002839.4

p.S601P

c.1801T>C

Surrounding Variants

1 paper

NM_002839.4

p.I600K

c.1799T>A

1 paper

NM_002839.4

p.Q606L

c.1817A>T

1 paper

NM_002839.4

p.Q606delFs

c.1817delT

1 paper

NM_002839.4

p.S607*

c.1820C>G

1 paper

NM_002839.4

p.S607*

c.1820C>A

1 paper

NM_002839.4

p.G594V

c.1781G>T

1 paper

NM_002839.4

p.L593L

c.1779G>T

1 paper

NM_002839.4

p.G592G

c.1776C>T

1 paper

NM_002839.4

p.P590H

c.1769C>A

1 paper

NM_002839.4

p.K608Splc

c.1822+13C>T

1 paper

NM_002839.4

p.S589T

c.1765T>A

1 paper

NM_002839.4

p.R588C

c.1762C>T