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.Q67E

c.199C>G

Surrounding Variants

1 paper

NM_002839.4

p.R68I

c.203G>T

1 paper

NM_002839.4

p.E70*

c.208G>T

1 paper

NM_002839.4

p.E70_V71Splc

c.210+1G>T

1 paper

NM_002839.4

p.K62R

c.185A>G

1 paper

NM_002839.4

p.G61fs

c.181_182fs

2 papers

NM_002839.4

p.G61E

c.182G>A

1 paper

NM_002839.4

p.G61R

c.181G>C

1 paper

NM_002839.4

p.G61R

c.181G>A

1 paper

NM_002839.4

p.K60delFs

c.180delT

1 paper

NM_002839.4

p.N58K

c.174C>G

1 paper

NM_002839.4

p.N58K

c.174C>A

1 paper

NM_002839.4

p.N58Y

c.172A>T