Varaico: Literature-Extracted Genetic Variants

Gene:PTPRD
Variant:p.T332T

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.T332T
c.996C>T
Surrounding Variants
1 paper
NM_002839.4
p.T335Fs
c.1003delinsGAFs
1 paper
NM_002839.4
p.T335T
c.1005A>G
2 papers
NM_002839.4
p.A336G
c.1007C>G
2 papers
NM_002839.4
p.T337A
c.1009A>G
1 paper
NM_002839.4
p.T337I
c.1010C>T
1 paper
NM_002839.4
p.G327A
c.980G>C
1 paper
NM_002839.4
p.G327E
c.980G>A
1 paper
NM_002839.4
p.P326L
c.977C>T
2 papers
NM_002839.4
p.P326R
c.977C>G
1 paper
NM_002839.4
p.I339L
c.1015A>C
1 paper
NM_002839.4
p.P326S
c.976C>T
1 paper
NM_002839.4
p.P326A
c.976C>G
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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."