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.R574delFs

c.1721delC

Surrounding Variants

1 paper

NM_005401.5

p.R572Q

c.1715G>A

1 paper

NM_005401.5

p.R572W

c.1714C>T

1 paper

NM_005401.5

p.Y570fs

c.1708_1709fs

1 paper

NM_005401.5

p.Y570fs

c.1708_1709fs

1 paper

NM_005401.5

p.P568S

c.1702C>T

1 paper

NM_005401.5

p.D581A

c.1742A>C

1 paper

NM_005401.5

p.P567P

c.1701G>A

1 paper

NM_005401.5

p.P566Q

c.1697C>A

1 paper

NM_005401.5

p.Y562C

c.1685A>G

1 paper

NM_005401.5

p.Y562D

c.1684T>G

1 paper

NM_005401.5

p.G592S

c.1774G>A

2 papers

NM_005401.5

p.P595L

c.1784C>T