Varaico: Literature-Extracted Genetic Variants

PTPN18

49 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

Y_phosphataseaa 56–290UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 18

HGNC Previous Name

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014369.4

p.R216H

c.647G>A

Surrounding Variants

1 paper

NM_014369.4

p.R216C

c.646C>T

1 paper

NM_014369.4

p.G221C

c.661G>T

1 paper

NM_014369.4

p.H206Y

c.616C>T

1 paper

NM_014369.4

p.C229S

c.685T>A

1 paper

NM_014369.4

p.C229S

c.686G>C

3 papers

NM_014369.4

p.D197A

c.590A>C

1 paper

NM_014369.4

p.M193I

c.579G>A

1 paper

NM_014369.4

p.M193I

c.579G>C

1 paper

NM_014369.4

p.M193I

c.579G>T

1 paper

NM_014369.4

p.K177T

c.530A>C

1 paper

NM_014369.4

p.L167_E169del3

c.499_506del9

1 paper

NM_014369.4

p.K163_E164del1

c.488_490delAGG