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.D419G

c.1256A>G

Surrounding Variants

6 papers

NM_002831.6

p.D419A

c.1256A>C

1 paper

NM_002831.6

p.H420H

c.1260T>C

1 paper

NM_002831.6

p.Y414C

c.1241A>G

1 paper

NM_002831.6

p.G427V

c.1280G>T

1 paper

NM_002831.6

p.L430L

c.1290C>T

1 paper

NM_002831.6

p.R407Q

c.1220G>A

1 paper

NM_002831.6

p.S431delFs

c.1293delC

1 paper

NM_002831.6

p.F432F

c.1296C>T

1 paper

NM_002831.6

p.Q440*

c.1318C>T

4 papers

NM_002831.6

p.E441G

c.1322A>G

1 paper

NM_002831.6

p.H445fs

c.1333_1334fs

1 paper

NM_002831.6

p.H445H

c.1335C>T