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

2 papers

NM_002839.4

p.E440K

c.1318G>A

Surrounding Variants

1 paper

NM_002839.4

p.K439N

c.1317G>T

1 paper

NM_002839.4

p.K439N

c.1317G>C

2 papers

NM_002839.4

p.K439K

c.1317G>A

1 paper

NM_002839.4

p.K439*

c.1315A>T

1 paper

NM_002839.4

p.E442*

c.1324G>T

5 papers

NM_002839.4

p.Q437E

c.1309C>G

2 papers

NM_002839.4

p.L435V

c.1303T>G

3 papers

NM_002839.4

p.G446E

c.1337G>A

14 papers

NM_002839.4

p.Q447E

c.1339C>G

1 paper

NM_002839.4

p.P444_Q447delins

c.1331_1339delinsTAAATGGAG

1 paper

NM_002839.4

p.T433S

c.1297A>T

13 papers

NM_002839.4

p.S431L

c.1292C>T