Varaico: Literature-Extracted Genetic Variants

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.S725T

c.2173T>A

Surrounding Variants

3 papers

NM_002839.4

p.A722S

c.2164G>T

1 paper

NM_002839.4

p.E721Q

c.2161G>C

1 paper

NM_002839.4

p.V720L

c.2158G>T

1 paper

NM_002839.4

p.V720L

c.2158G>C

1 paper

NM_002839.4

p.V720I

c.2158G>A

1 paper

NM_002839.4

p.S731*

c.2192C>G

1 paper

NM_002839.4

p.S731*

c.2192C>A

3 papers

NM_002839.4

p.R733H

c.2198G>A

1 paper

NM_002839.4

p.R716H

c.2147G>A

1 paper

NM_002839.4

p.R716C

c.2146C>T

1 paper

NM_002839.4

p.P715L

c.2144C>T

2 papers

NM_002839.4

p.P715S

c.2143C>T