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

5 papers

NM_005401.5

p.E189G

c.566A>G

Surrounding Variants

1 paper

NM_005401.5

p.V186delFs

c.556delC

1 paper

NM_005401.5

p.S194fs

c.580_581fs

1 paper

NM_005401.5

p.S194Splc

c.581+5G>A

1 paper

NM_005401.5

p.L182V

c.544C>G

1 paper

NM_005401.5

p.E176*

c.526G>T

1 paper

NM_005401.5

p.D171H

c.511G>C

1 paper

NM_005401.5

p.N207S

c.620A>G

1 paper

NM_005401.5

p.E208*

c.622G>T

1 paper

NM_005401.5

p.E210D

c.630A>T

1 paper

NM_005401.5

p.I219M

c.657C>G

1 paper

NM_005401.5

p.P221L

c.662C>T

1 paper

NM_005401.5

p.K223N

c.669G>T