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.N398I

c.1193A>T

Surrounding Variants

1 paper

NM_002839.4

p.G400R

c.1198G>A

1 paper

NM_002839.4

p.V396I

c.1186G>A

1 paper

NM_002839.4

p.R401W

c.1201C>T

1 paper

NM_002839.4

p.V394A

c.1181T>C

1 paper

NM_002839.4

p.V394I

c.1180G>A

1 paper

NM_002839.4

p.P403fs

c.1207_1208fs

2 papers

NM_002839.4

p.P403L

c.1208C>T

1 paper

NM_002839.4

p.R392M

c.1175G>T

1 paper

NM_002839.4

p.S405N

c.1214G>A

1 paper

NM_002839.4

p.S405R

c.1215C>A

6 papers

NM_002839.4

p.E406K

c.1216G>A

1 paper

NM_002839.4

p.E406E

c.1218A>G