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

2 papers

NM_014369.4

p.P415R

c.1244C>G

Surrounding Variants

1 paper

NM_014369.4

p.S423A

c.1267T>G

1 paper

NM_014369.4

p.R443H

c.1328G>A

1 paper

NM_014369.4

p.E456Q

c.1366G>C

3 papers

NM_014369.4

p.Q371_G373del0

c.1113_1118del6

1 paper

NM_014369.4

p.A362T

c.1084G>A

1 paper

NM_014369.4

p.K359E

c.1075A>G

1 paper

NM_014369.4

p.Y354F

c.1061A>T

1 paper

NM_014369.4

p.S345S

c.1035C>T

1 paper

NM_014369.4

p.R338Splc

c.1013+18C>T

1 paper

NM_014369.4

p.A328P

c.982G>C

1 paper

NM_014369.4

p.L313F

c.937C>T

1 paper

NM_014369.4

p.Y303F

c.908A>T