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.K18M

c.53A>T

Surrounding Variants

1 paper

NM_005401.5

p.R26C

c.76C>T

1 paper

NM_005401.5

p.L27L

c.79C>T

1 paper

NM_005401.5

p.R9P

c.26G>C

2 papers

NM_005401.5

p.R9W

c.25C>T

1 paper

NM_005401.5

p.R8H

c.23G>A

1 paper

NM_005401.5

p.R8C

c.22C>T

1 paper

NM_005401.5

p.N31S

c.92A>G

1 paper

NM_005401.5

p.I33T

c.98T>C

2 papers

NM_005401.5

p.M1Fs

c.1_2delinsATGGFs

1 paper

NM_005401.5

p.M1I

c.3G>A

1 paper

NM_005401.5

p.M1delFs

c.2delA

1 paper

NM_005401.5

p.M1Fs

c.2delinsCTGFs