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.Q527_S528Splc

c.1581+24G>C

Surrounding Variants

1 paper

NM_002831.6

p.K522del1

c.1564_1565delAAG

1 paper

NM_002831.6

p.Q514K

c.1540C>A

1 paper

NM_002831.6

p.Y505F

c.1514A>T

1 paper

NM_002831.6

p.Q504*

c.1510C>T

3 papers

NM_002831.6

p.Y536F

c.1607A>T

1 paper

NM_002831.6

p.Q500E

c.1498C>G

1 paper

NM_002831.6

p.M498delins

c.1493_1494delinsAG

1 paper

NM_002831.6

p.R495H

c.1484G>A

1 paper

NM_002831.6

p.Q494L

c.1481A>T

1 paper

NM_002831.6

p.R492L

c.1475G>T

2 papers

NM_002831.6

p.A550V

c.1649C>T

1 paper

NM_002831.6

p.Q485H

c.1455G>C