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

6 papers

NM_002839.4

p.L858R

c.2573T>G

Surrounding Variants

1 paper

NM_002839.4

p.R857L

c.2570G>T

1 paper

NM_002839.4

p.R857H

c.2570G>A

1 paper

NM_002839.4

p.F860I

c.2578T>A

1 paper

NM_002839.4

p.F860fs

c.2578_2579fs

1 paper

NM_002839.4

p.R862G

c.2584C>G

1 paper

NM_002839.4

p.R862L

c.2585G>T

1 paper

NM_002839.4

p.Q854*

c.2560C>T

1 paper

NM_002839.4

p.K863N

c.2589G>T

1 paper

NM_002839.4

p.R862_K863ins0

c.2586_2588dupCAA

1 paper

NM_002839.4

p.K863N

c.2589G>C

1 paper

NM_002839.4

p.M865V

c.2593A>G

1 paper

NM_002839.4

p.G851E

c.2552G>A