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.M130I

c.390G>A

Surrounding Variants

1 paper

NM_002839.4

p.M130I

c.390G>T

1 paper

NM_002839.4

p.M130I

c.390G>C

1 paper

NM_002839.4

p.M130K

c.389T>A

2 papers

NM_002839.4

p.D129N

c.385G>A

1 paper

NM_002839.4

p.Q133*

c.397C>T

1 paper

NM_002839.4

p.P126S

c.376C>T

1 paper

NM_002839.4

p.K135N

c.405G>T

1 paper

NM_002839.4

p.K135N

c.405G>C

1 paper

NM_002839.4

p.G124S

c.370G>A

1 paper

NM_002839.4

p.R123S

c.369G>T

1 paper

NM_002839.4

p.R123S

c.369G>C

2 papers

NM_002839.4

p.E138Q

c.412G>C