Varaico: Literature-Extracted Genetic Variants

PTPN3

77 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

FERM_Naa 33–97UCSCFERM N-terminal domain

FERM_Maa 112–222UCSCFERM central domain

FERM_Caa 226–316UCSCFERM C-terminal PH-like domain

PDZaa 510–595UCSCPDZ domain

Y_phosphataseaa 670–900UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 3

HGNC Alias Symbol

PTPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002829.4

p.L232R

c.695T>G

Surrounding Variants

1 paper

NM_002829.4

p.D226Y

c.676G>T

1 paper

NM_002829.4

p.Y217N

c.649T>A

1 paper

NM_002829.4

p.D215Y

c.643G>T

2 papers

NM_002829.4

p.A211V

c.632C>T

1 paper

NM_002829.4

p.K260*

c.778A>T

1 paper

NM_002829.4

p.Q276P

c.827A>C

1 paper

NM_002829.4

p.V188V

c.564C>T

1 paper

NM_002829.4

p.D179N

c.535G>A

1 paper

NM_002829.4

p.P315S

c.943C>T

1 paper

NM_002829.4

p.R330delFs

c.990delC