Varaico: Literature-Extracted Genetic Variants

PTPN11

3,412 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 6–81UCSCSH2 domain

SH2aa 112–197UCSCSH2 domain

Y_phosphataseaa 273–520UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 11

HGNC Previous Symbol

NS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002834.5

p.Q495R

c.1484A>G

Surrounding Variants

2 papers

NM_002834.5

p.Q495K

c.1483C>A

4 papers

NM_002834.5

p.Q495*

c.1483C>T

1 paper

NM_002834.5

p.M496fs

c.1486_1487fs

1 paper

NM_002834.5

p.V497delFs

c.1489delG

2 papers

NM_002834.5

p.I494V

c.1480A>G

1 paper

NM_002834.5

p.I494_Q495delFs

c.1481_1485del5

3 papers

NM_002834.5

p.M496I

c.1488G>A

2 papers

NM_002834.5

p.M496I

c.1488G>C

3 papers

NM_002834.5

p.M496I

c.1488G>T

2 papers

NM_002834.5

p.T493T

c.1479C>T

3 papers

NM_002834.5

p.V497M

c.1489G>A

3 papers

NM_002834.5

p.V497L

c.1489G>C