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.M833I

c.2499G>A

Surrounding Variants

1 paper

NM_005401.5

p.M833I

c.2499G>T

1 paper

NM_005401.5

p.M833I

c.2499G>C

2 papers

NM_005401.5

p.E842*

c.2524G>T

1 paper

NM_005401.5

p.M846L

c.2536A>T

1 paper

NM_005401.5

p.M846L

c.2536A>C

1 paper

NM_005401.5

p.S807T

c.2419T>A

1 paper

NM_005401.5

p.A802S

c.2404G>T

1 paper

NM_005401.5

p.G801W

c.2401G>T

1 paper

NM_005401.5

p.A774T

c.2320G>A

1 paper

NM_005401.5

p.P772delFs

c.2314delG

1 paper

NM_005401.5

p.P772S

c.2314C>T

1 paper

NM_005401.5

p.Q768*

c.2302C>T