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.K1000Q

c.2998A>C

Surrounding Variants

3 papers

NM_002839.4

p.G1001R

c.3001G>C

3 papers

NM_002839.4

p.G1001R

c.3001G>A

1 paper

NM_002839.4

p.G1001V

c.3002G>T

1 paper

NM_002839.4

p.P1002T

c.3004C>A

1 paper

NM_002839.4

p.P1002delins

c.3005_3006delinsAA

1 paper

NM_002839.4

p.G1003R

c.3007G>C

1 paper

NM_002839.4

p.G1003R

c.3007G>A

2 papers

NM_002839.4

p.A996P

c.2986G>C

2 papers

NM_002839.4

p.P1004S

c.3010C>T

1 paper

NM_002839.4

p.R995R

c.2985T>A

1 paper

NM_002839.4

p.P1004Q

c.3011C>A

1 paper

NM_002839.4

p.R995H

c.2984G>A