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.Y301H

c.901T>C

Surrounding Variants

1 paper

NM_002831.6

p.Y301*

c.903C>G

1 paper

NM_002831.6

p.Y301Y

c.903C>T

1 paper

NM_002831.6

p.A304V

c.911C>T

1 paper

NM_002831.6

p.I296F

c.886A>T

1 paper

NM_002831.6

p.K308R

c.923A>G

1 paper

NM_002831.6

p.N317N

c.951C>T

3 papers

NM_002831.6

p.G326G

c.978T>C

1 paper

NM_002831.6

p.C327G

c.979T>G

1 paper

NM_002831.6

p.W340*

c.1019G>A

1 paper

NM_002831.6

p.W340*

c.1020G>A

1 paper

NM_002831.6

p.E342E

c.1026G>A

1 paper

NM_002831.6

p.I347N

c.1040T>A