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.I476M

c.1428C>G

Surrounding Variants

2 papers

NM_002839.4

p.T477S

c.1429A>T

2 papers

NM_002839.4

p.T477S

c.1430C>G

1 paper

NM_002839.4

p.D473V

c.1418A>T

1 paper

NM_002839.4

p.D473Y

c.1417G>T

3 papers

NM_002839.4

p.V483E

c.1448T>A

1 paper

NM_002839.4

p.N470Y

c.1408A>T

2 papers

NM_002839.4

p.Q485K

c.1453C>A

2 papers

NM_002839.4

p.W466*

c.1398G>A

2 papers

NM_002839.4

p.W466*

c.1397G>A

2 papers

NM_002839.4

p.T487K

c.1460C>A

2 papers

NM_002839.4

p.Y488D

c.1462T>G

1 paper

NM_002839.4

p.N464I

c.1391A>T