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.S1484L

c.4451C>T

Surrounding Variants

1 paper

NM_002850.4

p.T1486I

c.4457C>T

1 paper

NM_002850.4

p.V1488I

c.4462G>A

1 paper

NM_002850.4

p.M1478I

c.4434G>T

1 paper

NM_002850.4

p.M1478I

c.4434G>C

1 paper

NM_002850.4

p.M1478I

c.4434G>A

1 paper

NM_002850.4

p.R1477H

c.4430G>A

1 paper

NM_002850.4

p.T1491M

c.4472C>T

1 paper

NM_002850.4

p.R1492W

c.4474C>T

2 papers

NM_002850.4

p.R1492Q

c.4475G>A

1 paper

NM_002850.4

p.E1495*

c.4483G>T

1 paper

NM_002850.4

p.S1497fs

c.4489_4490fs

1 paper

NM_002850.4

p.L1468Q

c.4403T>A