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

7 papers

NM_002839.4

p.R561Q

c.1682G>A

Surrounding Variants

1 paper

NM_002839.4

p.R561*

c.1681C>T

1 paper

NM_002839.4

p.I562fs

c.1684_1685fs

1 paper

NM_002839.4

p.Q560R

c.1679A>G

1 paper

NM_002839.4

p.I562_E565delFs

c.1684_1694del11

1 paper

NM_002839.4

p.P566L

c.1697C>T

1 paper

NM_002839.4

p.S569P

c.1705T>C

1 paper

NM_002839.4

p.E559_Q560Splc

c.1678-21A>G

1 paper

NM_002839.4

p.Y570C

c.1709A>G

2 papers

NM_002839.4

p.Q573*

c.1717C>T

1 paper

NM_001040712.2

p.E556_Q557Splc

c.1669-33A>G

1 paper

NM_002839.4

p.Y582F

c.1745A>T

1 paper

NM_002839.4

p.R584C

c.1750C>T