Varaico: Literature-Extracted Genetic Variants

Gene:PTPRD
Variant:p.M605Splc

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_001040712.2
p.M605Splc
c.1814-1038C>A
Surrounding Variants
3 papers
NM_002839.4
p.R828W
c.2482C>T
1 paper
NM_002839.4
p.N832D
c.2494A>G
1 paper
NM_002839.4
p.T834I
c.2501C>T
3 papers
NM_002839.4
p.M836I
c.2508G>T
3 papers
NM_002839.4
p.M836I
c.2508G>C
4 papers
NM_002839.4
p.M836I
c.2508G>A
1 paper
NM_002839.4
p.N837D
c.2509A>G
1 paper
NM_002839.4
p.N837I
c.2510A>T
1 paper
NM_002839.4
p.L840F
c.2518C>T
1 paper
NM_002839.4
p.W843*
c.2529G>A
1 paper
NM_002839.4
p.P845S
c.2533C>T
1 paper
NM_002839.4
p.P846L
c.2537C>T
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