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

1 paper

NM_002829.4

p.K260*

c.778A>T

Surrounding Variants

1 paper

NM_002829.4

p.Q276P

c.827A>C

1 paper

NM_002829.4

p.P315S

c.943C>T

1 paper

NM_002829.4

p.R330delFs

c.990delC

2 papers

NM_002829.4

p.L232R

c.695T>G

1 paper

NM_002829.4

p.D226Y

c.676G>T

1 paper

NM_002829.4

p.N337S

c.1010A>G

1 paper

NM_002829.4

p.N351H

c.1051A>C

1 paper

NM_002829.4

p.R356S

c.1068A>T

1 paper

NM_002829.4

p.R356S

c.1068A>C

1 paper

NM_002829.4

p.P374L

c.1121C>T

1 paper

NM_002829.4

p.R383delFs

c.1149delC

1 paper

NM_002829.4

p.L384H

c.1151T>A