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

5 papers

NM_002839.4

p.P421L

c.1262C>T

Surrounding Variants

1 paper

NM_002839.4

p.P421R

c.1262C>G

1 paper

NM_002839.4

p.P421P

c.1263G>T

1 paper

NM_002839.4

p.R422K

c.1265G>A

1 paper

NM_002839.4

p.V424D

c.1271T>A

1 paper

NM_002839.4

p.Q425*

c.1273C>T

2 papers

NM_002839.4

p.Q425K

c.1273C>A

1 paper

NM_002839.4

p.Q425P

c.1274A>C

1 paper

NM_002839.4

p.Q425H

c.1275G>T

1 paper

NM_002839.4

p.A416A

c.1248A>G

2 papers

NM_002839.4

p.A426E

c.1277C>A

3 papers

NM_002839.4

p.R427Q

c.1280G>A

2 papers

NM_002839.4

p.Q415K

c.1243C>A