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.L47V

c.139C>G

Surrounding Variants

1 paper

NM_005401.5

p.V50A

c.149T>C

1 paper

NM_005401.5

p.A51T

c.151G>A

2 papers

NM_005401.5

p.T42A

c.124A>G

1 paper

NM_005401.5

p.Q52H

c.156G>T

1 paper

NM_005401.5

p.Q52H

c.156G>C

1 paper

NM_005401.5

p.L54M

c.160C>A

1 paper

NM_005401.5

p.R57*

c.169C>T

1 paper

NM_005401.5

p.I33T

c.98T>C

1 paper

NM_005401.5

p.N31S

c.92A>G

1 paper

NM_005401.5

p.L27L

c.79C>T

1 paper

NM_005401.5

p.R26C

c.76C>T

1 paper

NM_005401.5

p.K18M

c.53A>T