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.A742V

c.2225C>T

Surrounding Variants

1 paper

NM_005401.5

p.A739V

c.2216C>T

1 paper

NM_005401.5

p.P749L

c.2246C>T

1 paper

NM_005401.5

p.S734G

c.2200A>G

1 paper

NM_005401.5

p.P748_S758del11

c.2242_2273del33

1 paper

NM_005401.5

p.I724T

c.2171T>C

1 paper

NM_005401.5

p.E716_A717del2

c.2146_2150del6

8 papers

NM_005401.5

p.E716_A717del1

c.2147_2149delCCT

1 paper

NM_005401.5

p.Q768*

c.2302C>T

1 paper

NM_005401.5

p.E714K

c.2140G>A

1 paper

NM_005401.5

p.E712D

c.2136G>T

1 paper

NM_005401.5

p.E712D

c.2136G>C

1 paper

NM_005401.5

p.P772S

c.2314C>T