Varaico: Literature-Extracted Genetic Variants

PTPRH

81 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

fn3aa 28–116UCSCFibronectin type III domain

fn3aa 120–207UCSCFibronectin type III domain

fn3aa 209–293UCSCFibronectin type III domain

fn3aa 298–385UCSCFibronectin type III domain

fn3aa 387–473UCSCFibronectin type III domain

fn3aa 566–660UCSCFibronectin type III domain

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type H

HGNC Alias Symbol

SAP-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002842.5

p.Q887*

c.2659C>T

Surrounding Variants

1 paper

NM_002842.5

p.Q887P

c.2660A>C

1 paper

NM_002842.5

p.A891E

c.2672C>A

1 paper

NM_002842.5

p.P895S

c.2683C>T

1 paper

NM_002842.5

p.P895L

c.2684C>T

1 paper

NM_002842.5

p.Q898H

c.2694G>T

1 paper

NM_002842.5

p.Q898H

c.2694G>C

1 paper

NM_002842.5

p.T899R

c.2696C>G

2 papers

NM_002842.5

p.D902D

c.2706C>T

1 paper

NM_002842.5

p.R860L

c.2579G>T

1 paper

NM_002842.5

p.R860Q

c.2579G>A

1 paper

NM_002842.5

p.R860W

c.2578C>T

1 paper

NM_002842.5

p.P939A

c.2815C>G