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

1 paper

NM_005401.5

p.T536M

c.1607C>T

Surrounding Variants

1 paper

NM_005401.5

p.S534L

c.1601C>T

1 paper

NM_005401.5

p.A530fs

c.1588_1589fs

1 paper

NM_005401.5

p.A530V

c.1589C>T

1 paper

NM_005401.5

p.V524G

c.1571T>G

1 paper

NM_005401.5

p.G549A

c.1646G>C

1 paper

NM_005401.5

p.Y562D

c.1684T>G

1 paper

NM_005401.5

p.L510R

c.1529T>G

1 paper

NM_005401.5

p.L510P

c.1529T>C

1 paper

NM_005401.5

p.Y562C

c.1685A>G

1 paper

NM_005401.5

p.S507I

c.1520G>T

1 paper

NM_005401.5

p.P566Q

c.1697C>A

1 paper

NM_005401.5

p.V505F

c.1513G>T