Varaico: Literature-Extracted Genetic Variants

PTPRS

194 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 33–124UCSCImmunoglobulin I-set domain

Ig_3aa 135–220UCSCImmunoglobulin domain

Ig_3aa 244–315UCSCImmunoglobulin domain

fn3aa 333–420UCSCFibronectin type III domain

fn3aa 428–519UCSCFibronectin type III domain

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type S

HGNC Alias Symbols

PTPsigma; PTP-sigma

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002850.4

p.V1025fs

c.3073_3074fs

Surrounding Variants

1 paper

NM_002850.4

p.P1024insFs

c.3072dupC

1 paper

NM_002850.4

p.P1024H

c.3071C>A

1 paper

NM_002850.4

p.R1026H

c.3077G>A

1 paper

NM_002850.4

p.R1032Q

c.3095G>A

1 paper

NM_002850.4

p.R1011_T1014delins

c.3031_3040delinsTGCTACCGGC

2 papers

NM_002850.4

p.R1011Q

c.3032G>A

1 paper

NM_002850.4

p.D1003N

c.3007G>A

1 paper

NM_002850.4

p.A994V

c.2981C>T

1 paper

NM_002850.4

p.E992D

c.2976G>T

1 paper

NM_002850.4

p.E992D

c.2976G>C

2 papers

NM_002850.4

p.A991V

c.2972C>T

1 paper

NM_002850.4

p.A991T

c.2971G>A