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

1–12 of 338 variants

4 papers

NM_002850.4

p.C1457R

c.4369T>C

3 papers

NM_002850.4

p.C27Y

c.80G>A

3 papers

NM_002850.4

p.P622fs

c.1864_1865fs

3 papers

NM_002850.4

p.R929C

c.2785C>T

2 papers

NM_002850.4

p.R183C

c.547C>T

2 papers

NM_002850.4

p.P622delFs

c.1865delG

2 papers

NM_002850.4

p.E791K

c.2371G>A

2 papers

NM_002850.4

p.A879A

c.2637C>T

2 papers

NM_002850.4

p.V969M

c.2905G>A

2 papers

NM_002850.4

p.A991V

c.2972C>T

2 papers

NM_002850.4

p.R1011Q

c.3032G>A

2 papers

NM_002850.4

p.V1025fs

c.3073_3074fs