Varaico: Literature-Extracted Genetic Variants

PTPN6

281 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

SH2aa 4–79UCSCSH2 domain

SH2aa 110–194UCSCSH2 domain

Y_phosphataseaa 270–514UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 6

HGNC Alias Symbols

HCPH; PTP-1C; SHP-1; SHP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002831.6

p.G180S

c.538G>A

Surrounding Variants

1 paper

NM_002831.6

p.G179C

c.535G>T

1 paper

NM_002831.6

p.E182K

c.544G>A

1 paper

NM_002831.6

p.F184Y

c.551T>A

1 paper

NM_002831.6

p.R175L

c.524G>T

1 paper

NM_002831.6

p.K195_K196insT

c.583_587ins3

1 paper

NM_002831.6

p.A205G

c.614C>G

11 papers

NM_002831.6

p.Y208N

c.622T>A

2 papers

NM_002831.6

p.E172Q

c.514G>C

1 paper

NM_002831.6

p.T216insFs

c.646_647insG

1 paper

NM_002831.6

p.R217M

c.650G>T

1 paper

NM_002831.6

p.A156S

c.466G>T

1 paper

NM_002831.6

p.Q153R

c.458A>G