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

4 papers

NM_005401.5

p.T351M

c.1052C>T

Surrounding Variants

1 paper

NM_005401.5

p.H352H

c.1056C>T

1 paper

NM_005401.5

p.S354S

c.1062G>A

4 papers

NM_005401.5

p.H360P

c.1079A>C

2 papers

NM_005401.5

p.L376V

c.1126T>G

4 papers

NM_005401.5

p.V388M

c.1162G>A

1 paper

NM_005401.5

p.N398S

c.1193A>G

1 paper

NM_005401.5

p.F403fs

c.1207_1208fs

1 paper

NM_005401.5

p.F403fs

c.1207_1208fs

1 paper

NM_005401.5

p.F403delFs

c.1209delG

2 papers

NM_005401.5

p.Q405*

c.1213C>T

1 paper

NM_005401.5

p.S411Y

c.1232C>A

1 paper

NM_005401.5

p.L413_S418delFs

c.1238_1253del16