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

46 papers

NM_002834.5

p.R498L

c.1493G>T

Surrounding Variants

10 papers

NM_002834.5

p.R498Q

c.1493G>A

1 paper

NM_002834.5

p.R498delins

c.1493_1494delinsTA

1 paper

NM_002834.5

p.R498G

c.1492C>G

91 papers

NM_002834.5

p.R498W

c.1492C>T

NM_001330437.2

p.R502W

c.1504C>T

1 paper

NM_002834.5

p.V497V

c.1491G>A

2 papers

NM_002834.5

p.S499T

c.1495T>A

3 papers

NM_002834.5

p.S499P

c.1495T>C

8 papers

NM_002834.5

p.S499F

c.1496C>T

3 papers

NM_002834.5

p.V497M

c.1489G>A

3 papers

NM_002834.5

p.V497L

c.1489G>C

1 paper

NM_002834.5

p.V497insFs

c.1490dupT

3 papers

NM_002834.5

p.V497L

c.1489G>T