Varaico: Literature-Extracted Genetic Variants

Gene:PTPRD
Variant:p.A41D

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.A41D
c.122C>A
Surrounding Variants
1 paper
NM_002839.4
p.A41V
c.122C>T
1 paper
NM_002839.4
p.A41Fs
c.121delinsTTFs
1 paper
NM_002839.4
p.S42delFs
c.124delA
1 paper
NM_002839.4
p.S42fs
c.124_125fs
1 paper
NM_002839.4
p.F43L
c.127T>C
1 paper
NM_002839.4
p.F43L
c.129C>G
1 paper
NM_002839.4
p.F43L
c.129C>A
2 papers
NM_002839.4
p.C45F
c.134G>T
1 paper
NM_002839.4
p.Q46K
c.136C>A
1 paper
NM_002839.4
p.G35G
c.105G>A
1 paper
NM_002839.4
p.G49R
c.145G>A
3 papers
NM_002839.4
p.D32Y
c.94G>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."