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

1–12 of 86 variants

6 papers

NM_002829.4

p.A90P

c.268G>C

3 papers

NM_002829.4

p.D811A

c.2432A>C

3 papers

NM_002829.4

p.C842S

c.2524T>A

3 papers

NM_002829.4

p.C842S

c.2525G>C

2 papers

NM_002829.4

p.A211V

c.632C>T

2 papers

NM_002829.4

p.L232R

c.695T>G

2 papers

NM_002829.4

p.D811E

c.2433C>G

2 papers

NM_002829.4

p.D811E

c.2433C>A

1 paper

NM_002829.4

p.R6C

c.16C>T

1 paper

NM_002829.4

p.R16H

c.47G>A

1 paper

NM_002829.4

p.T46N

c.137C>A

1 paper

NM_002829.4

p.D49Y

c.145G>T