Varaico: Literature-Extracted Genetic Variants

Gene:PTPRD

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
1–12 of 1150 variants
21 papers
NM_002839.4
p.R995C
c.2983C>T
14 papers
NM_002839.4
p.Q447E
c.1339C>G
13 papers
NM_002839.4
p.S431L
c.1292C>T
12 papers
NM_002839.4
p.T781A
c.2341A>G
8 papers
NM_002839.4
p.V892A
c.2675T>C
7 papers
NM_002839.4
p.D154Y
c.460G>T
7 papers
NM_002839.4
p.R561Q
c.1682G>A
6 papers
NM_002839.4
p.E406K
c.1216G>A
6 papers
NM_002839.4
p.L858R
c.2573T>G
6 papers
NM_002839.4
p.R1151H
c.3452G>A
5 papers
NM_002839.4
p.R28Q
c.83G>A
5 papers
NM_002839.4
p.P421L
c.1262C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."