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.S605A

c.1813T>G

Surrounding Variants

2 papers

NM_005401.5

p.P595L

c.1784C>T

1 paper

NM_005401.5

p.G592S

c.1774G>A

1 paper

NM_005401.5

p.H618R

c.1853A>G

3 papers

NM_005401.5

p.Q619*

c.1855C>T

1 paper

NM_005401.5

p.Q622*

c.1864C>T

1 paper

NM_005401.5

p.D581A

c.1742A>C

1 paper

NM_005401.5

p.A630T

c.1888G>A

1 paper

NM_005401.5

p.K632Q

c.1894A>C

1 paper

NM_005401.5

p.R574delFs

c.1721delC

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.N638K

c.1914C>G