Varaico: Literature-Extracted Genetic Variants

Gene:PTPRD
Variant:p.V31A

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.V31A
c.92T>C
Surrounding Variants
3 papers
NM_002839.4
p.D32Y
c.94G>T
5 papers
NM_002839.4
p.R28Q
c.83G>A
1 paper
NM_002839.4
p.R28*
c.82C>T
1 paper
NM_002839.4
p.G35G
c.105G>A
1 paper
NM_002839.4
p.T27A
c.79A>G
1 paper
NM_002839.4
p.R25insFs
c.73_74ins20
1 paper
NM_002839.4
p.P24P
c.72A>T
1 paper
NM_002839.4
p.P24delins
c.71_72delinsTT
1 paper
NM_002839.4
p.P24delFs
c.71delG
1 paper
NM_002839.4
p.P24L
c.71C>T
2 papers
NM_002839.4
p.P23L
c.68C>T
1 paper
NM_002839.4
p.T22R
c.65C>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."