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

5 papers

NM_002831.6

p.A455T

c.1363G>A

Surrounding Variants

1 paper

NM_002831.6

p.R459H

c.1376G>A

1 paper

NM_002831.6

p.G461S

c.1381G>A

1 paper

NM_002831.6

p.T462I

c.1385C>T

1 paper

NM_002831.6

p.E471K

c.1411G>A

1 paper

NM_002831.6

p.D479N

c.1435G>A

1 paper

NM_002831.6

p.I482F

c.1444A>T

1 paper

NM_002831.6

p.Q485H

c.1455G>C

1 paper

NM_002831.6

p.Q485H

c.1455G>T

1 paper

NM_002831.6

p.R492L

c.1475G>T

1 paper

NM_002831.6

p.Q494L

c.1481A>T

1 paper

NM_002831.6

p.R495H

c.1484G>A

1 paper

NM_002831.6

p.M498delins

c.1493_1494delinsAG