Varaico: Literature-Extracted Genetic Variants

PTPN14

202 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 25–88UCSCFERM N-terminal domain

FERM_Maa 104–220UCSCFERM central domain

FERM_Caa 224–309UCSCFERM C-terminal PH-like domain

Y_phosphataseaa 933–1179UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 14

HGNC Alias Symbols

PEZ; PTPD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005401.5

p.R74*

c.220C>T

Surrounding Variants

1 paper

NM_005401.5

p.R74G

c.220C>G

1 paper

NM_005401.5

p.L78insFs

c.232_233insAA

1 paper

NM_005401.5

p.S70G

c.208A>G

1 paper

NM_005401.5

p.F62delFs

c.186delA

1 paper

NM_005401.5

p.Y61F

c.182A>T

1 paper

NM_005401.5

p.H60Q

c.180C>G

1 paper

NM_005401.5

p.H60Q

c.180C>A

1 paper

NM_005401.5

p.T59T

c.177G>A

1 paper

NM_005401.5

p.E58_T59Splc

c.175-2A>G

2 papers

NM_005401.5

p.A90T

c.268G>A

1 paper

NM_005401.5

p.M100I

c.300G>T

1 paper

NM_005401.5

p.M100I

c.300G>C