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.R141G

c.421C>G

Surrounding Variants

1 paper

NM_002839.4

p.R141C

c.421C>T

1 paper

NM_002839.4

p.R141fs

c.421_422fs

3 papers

NM_002839.4

p.R141H

c.422G>A

1 paper

NM_002839.4

p.T142M

c.425C>T

1 paper

NM_002839.4

p.T142T

c.426G>A

3 papers

NM_002839.4

p.A143T

c.427G>A

1 paper

NM_002839.4

p.R139C

c.415C>T

2 papers

NM_002839.4

p.E138Q

c.412G>C

3 papers

NM_002839.4

p.E138K

c.412G>A

1 paper

NM_002839.4

p.L146F

c.436C>T

1 paper

NM_002839.4

p.K135N

c.405G>T

1 paper

NM_002839.4

p.K135N

c.405G>C