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.E77K

c.229G>A

Surrounding Variants

1 paper

NM_002831.6

p.V76M

c.226G>A

1 paper

NM_002831.6

p.Y78*

c.234C>A

1 paper

NM_002831.6

p.Y78*

c.234C>G

1 paper

NM_002831.6

p.Y79C

c.236A>G

2 papers

NM_002831.6

p.T73I

c.218C>T

1 paper

NM_002831.6

p.T73A

c.217A>G

2 papers

NM_002831.6

p.Q82*

c.244C>T

1 paper

NM_002831.6

p.Q83*

c.247C>T

1 paper

NM_002831.6

p.V85A

c.254T>C

1 paper

NM_002831.6

p.K68T

c.203A>C

1 paper

NM_002831.6

p.E67K

c.199G>A

1 paper

NM_002831.6

p.G65_G66insFs

c.195_196insT