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

4 papers

NM_014369.4

p.V264_K266del0

c.792_797del6

Surrounding Variants

1 paper

NM_014369.4

p.L265F

c.793C>T

3 papers

NM_014369.4

p.V264_K266del3

c.790_797del9

1 paper

NM_014369.4

p.D262H

c.784G>C

1 paper

NM_014369.4

p.Q276*

c.826C>T

1 paper

NM_014369.4

p.T251A

c.751A>G

1 paper

NM_014369.4

p.Y281F

c.842A>T

1 paper

NM_014369.4

p.Y303F

c.908A>T

1 paper

NM_014369.4

p.L313F

c.937C>T

1 paper

NM_014369.4

p.A328P

c.982G>C

1 paper

NM_014369.4

p.C229S

c.686G>C

1 paper

NM_014369.4

p.C229S

c.685T>A

1 paper

NM_014369.4

p.R338Splc

c.1013+18C>T