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

1–12 of 139 variants

38 papers

NM_002831.6

p.C453S

c.1357T>A

38 papers

NM_002831.6

p.C453S

c.1358G>C

11 papers

NM_002831.6

p.Y208N

c.622T>A

6 papers

NM_002831.6

p.D419A

c.1256A>C

5 papers

NM_002831.6

p.A455T

c.1363G>A

4 papers

NM_002831.6

p.E441G

c.1322A>G

3 papers

NM_002831.6

p.Y61C

c.182A>G

3 papers

NM_002831.6

p.N225K

c.675C>A

3 papers

NM_002831.6

p.N225K

c.675C>G

3 papers

NM_002831.6

p.G326G

c.978T>C

3 papers

NM_002831.6

p.Y536F

c.1607A>T

3 papers

NM_002831.6

p.Y564F

c.1691A>T