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.V878I

c.2632G>A

Surrounding Variants

1 paper

NM_005401.5

p.R877Q

c.2630G>A

1 paper

NM_005401.5

p.G880_E882delFs

c.2640_2644del5

1 paper

NM_005401.5

p.G880_E882del3

c.2638_2645del9

1 paper

NM_005401.5

p.P892S

c.2674C>T

1 paper

NM_005401.5

p.E859G

c.2576A>G

3 papers

NM_005401.5

p.G857D

c.2570G>A

1 paper

NM_005401.5

p.K852M

c.2555A>T

1 paper

NM_005401.5

p.K852R

c.2555A>G

1 paper

NM_005401.5

p.E906*

c.2716G>T

1 paper

NM_005401.5

p.E914Q

c.2740G>C

1 paper

NM_005401.5

p.Q915*

c.2743C>T

1 paper

NM_005401.5

p.K919delFs

c.2755delT