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.H967Q

c.2901C>G

Surrounding Variants

1 paper

NM_005401.5

p.H967Q

c.2901C>A

1 paper

NM_005401.5

p.T955T

c.2865C>T

1 paper

NM_005401.5

p.E951Q

c.2851G>C

1 paper

NM_005401.5

p.E946_E947del2

c.2836_2840del6

1 paper

NM_005401.5

p.E946E

c.2838G>A

1 paper

NM_005401.5

p.R940P

c.2819G>C

1 paper

NM_005401.5

p.E935D

c.2805G>T

1 paper

NM_005401.5

p.E935D

c.2805G>C

2 papers

NM_005401.5

p.I924V

c.2770A>G

1 paper

NM_005401.5

p.K919delFs

c.2755delT

1 paper

NM_005401.5

p.Q915*

c.2743C>T

1 paper

NM_005401.5

p.E914Q

c.2740G>C