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.Q854*

c.2560C>T

Surrounding Variants

1 paper

NM_002839.4

p.G851E

c.2552G>A

2 papers

NM_002839.4

p.F850L

c.2550T>G

2 papers

NM_002839.4

p.F850L

c.2550T>A

1 paper

NM_002839.4

p.R857L

c.2570G>T

1 paper

NM_002839.4

p.R857H

c.2570G>A

2 papers

NM_002839.4

p.F850L

c.2548T>C

6 papers

NM_002839.4

p.L858R

c.2573T>G

1 paper

NM_002839.4

p.F860I

c.2578T>A

1 paper

NM_002839.4

p.D848N

c.2542G>A

1 paper

NM_002839.4

p.F860fs

c.2578_2579fs

4 papers

NM_002839.4

p.V847L

c.2539G>T

4 papers

NM_002839.4

p.V847L

c.2539G>C