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

1–12 of 278 variants

8 papers

NM_005401.5

p.E716_A717del1

c.2147_2149delCCT

5 papers

NM_005401.5

p.E189G

c.566A>G

4 papers

NM_005401.5

p.T351M

c.1052C>T

4 papers

NM_005401.5

p.H360P

c.1079A>C

4 papers

NM_005401.5

p.V388M

c.1162G>A

3 papers

NM_005401.5

p.Q619*

c.1855C>T

3 papers

NM_005401.5

p.R668C

c.2002C>T

3 papers

NM_005401.5

p.G857D

c.2570G>A

2 papers

NM_005401.5

p.M1Fs

c.1_2delinsATGGFs

2 papers

NM_005401.5

p.R9W

c.25C>T

2 papers

NM_005401.5

p.T42A

c.124A>G

2 papers

NM_005401.5

p.R74*

c.220C>T