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.M115I

c.345G>T

Surrounding Variants

1 paper

NM_002831.6

p.G118R

c.352G>A

1 paper

NM_002831.6

p.G118R

c.352G>C

1 paper

NM_002831.6

p.A120P

c.358G>C

1 paper

NM_002831.6

p.R136H

c.407G>A

1 paper

NM_002831.6

p.S138N

c.413G>A

1 paper

NM_002831.6

p.L139I

c.415C>A

1 paper

NM_002831.6

p.S151N

c.452G>A

2 papers

NM_002831.6

p.D152V

c.455A>T

1 paper

NM_002831.6

p.Q153R

c.458A>G

1 paper

NM_002831.6

p.A156S

c.466G>T

2 papers

NM_002831.6

p.E172Q

c.514G>C

1 paper

NM_002831.6

p.R175L

c.524G>T