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.Q252R

c.755A>G

Surrounding Variants

1 paper

NM_002831.6

p.S250N

c.749G>A

1 paper

NM_002831.6

p.V256L

c.766G>T

1 paper

NM_002831.6

p.R267W

c.799C>T

1 paper

NM_002831.6

p.E249_S250Splc

c.747+2T>C

1 paper

NM_002831.6

p.G243S

c.727G>A

1 paper

NM_002831.6

p.K241E

c.721A>G

1 paper

NM_002831.6

p.A240T

c.718G>A

1 paper

NM_002831.6

p.E237G

c.710A>G

3 papers

NM_002831.6

p.N225K

c.675C>A

3 papers

NM_002831.6

p.N225K

c.675C>G

1 paper

NM_002831.6

p.R217M

c.650G>T

1 paper

NM_002831.6

p.T216insFs

c.646_647insG