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.L466R

c.1397T>G

Surrounding Variants

1 paper

NM_005401.5

p.H475R

c.1424A>G

1 paper

NM_005401.5

p.R450P

c.1349G>C

1 paper

NM_005401.5

p.E446A

c.1337A>C

1 paper

NM_005401.5

p.P488L

c.1463C>T

1 paper

NM_005401.5

p.D444Y

c.1330G>T

1 paper

NM_005401.5

p.D444N

c.1330G>A

1 paper

NM_005401.5

p.T442N

c.1325C>A

1 paper

NM_005401.5

p.E492insFs

c.1474dupG

1 paper

NM_005401.5

p.R491_E492del2

c.1471_1475del6

1 paper

NM_005401.5

p.S486_R493delFs

c.1456_1477del22

1 paper

NM_005401.5

p.R493delins

c.1478_1479delinsTT

1 paper

NM_005401.5

p.I435I

c.1305C>A