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.T633M

c.1898C>T

Surrounding Variants

1 paper

NM_002850.4

p.R631del1

c.1891_1892delGCG

1 paper

NM_002850.4

p.R631C

c.1891C>T

1 paper

NM_002850.4

p.V628V

c.1884C>T

1 paper

NM_002850.4

p.D624E

c.1872C>G

1 paper

NM_002850.4

p.D624E

c.1872C>A

1 paper

NM_002850.4

p.P642L

c.1925C>T

1 paper

NM_002850.4

p.D624N

c.1870G>A

3 papers

NM_002850.4

p.P622fs

c.1864_1865fs

2 papers

NM_002850.4

p.P622delFs

c.1865delG

1 paper

NM_002850.4

p.P622L

c.1865C>T

1 paper

NM_002850.4

p.P644del1

c.1930_1932delCGG

1 paper

NM_002850.4

p.T646M

c.1937C>T