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.F99delFs

c.296delA

Surrounding Variants

1 paper

NM_002829.4

p.F99fs

c.295_296fs

1 paper

NM_002829.4

p.G98D

c.293G>A

1 paper

NM_002829.4

p.I111L

c.331A>T

1 paper

NM_002829.4

p.I111L

c.331A>C

1 paper

NM_002829.4

p.L95I

c.283T>A

1 paper

NM_002829.4

p.A90S

c.268G>T

6 papers

NM_002829.4

p.A90P

c.268G>C

1 paper

NM_002829.4

p.R83K

c.248G>A

1 paper

NM_002829.4

p.P82L

c.245C>T

1 paper

NM_002829.4

p.D76D

c.228C>T

1 paper

NM_002829.4

p.L54H

c.161T>A

1 paper

NM_002829.4

p.D49Y

c.145G>T