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

3 papers

NM_005401.5

p.R668C

c.2002C>T

Surrounding Variants

1 paper

NM_005401.5

p.R668P

c.2003G>C

1 paper

NM_005401.5

p.P664S

c.1990C>T

1 paper

NM_005401.5

p.P676S

c.2026C>T

1 paper

NM_005401.5

p.K659Q

c.1975A>C

1 paper

NM_005401.5

p.T657M

c.1970C>T

1 paper

NM_005401.5

p.S683N

c.2048G>A

1 paper

NM_005401.5

p.R651Q

c.1952G>A

1 paper

NM_005401.5

p.Q691H

c.2073G>T

1 paper

NM_005401.5

p.Q691H

c.2073G>C

2 papers

NM_005401.5

p.R640H

c.1919G>A

1 paper

NM_005401.5

p.N638K

c.1914C>G

1 paper

NM_005401.5

p.N638K

c.1914C>A