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

1 paper

NM_002850.4

p.R714C

c.2140C>T

Surrounding Variants

1 paper

NM_002850.4

p.E707D

c.2121G>T

1 paper

NM_002850.4

p.E707D

c.2121G>C

1 paper

NM_002850.4

p.V697V

c.2091C>T

1 paper

NM_002850.4

p.P676delFs

c.2027delG

1 paper

NM_002850.4

p.P676fs

c.2026_2027fs

1 paper

NM_002850.4

p.G673D

c.2018G>A

1 paper

NM_002850.4

p.P660L

c.1979C>T

1 paper

NM_002850.4

p.P660Q

c.1979C>A

1 paper

NM_002850.4

p.R659*

c.1975C>T

1 paper

NM_002850.4

p.P643_V656del0

c.1929_1967del39

1 paper

NM_002850.4

p.T646M

c.1937C>T

1 paper

NM_002850.4

p.P644del1

c.1930_1932delCGG