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

5 papers

NM_002834.5

p.R512Q

c.1535G>A

Surrounding Variants

1 paper

NM_002834.5

p.F513Y

c.1538T>A

5 papers

NM_002834.5

p.F513S

c.1538T>C

1 paper

NM_002834.5

p.M516ins3

c.1546_1547ins9

2 papers

NM_002834.5

p.I514V

c.1540A>G

1 paper

NM_002834.5

p.I514delFs

c.1541_1542delTC

42 papers

NM_002834.5

p.Q510H

c.1530G>C

42 papers

NM_002834.5

p.Q510H

c.1530G>T

44 papers

NM_002834.5

p.Q510P

c.1529A>C

38 papers

NM_002834.5

p.Q510R

c.1529A>G

24 papers

NM_002834.5

p.Q510L

c.1529A>T

18 papers

NM_002834.5

p.Q510K

c.1528C>A

134 papers

NM_002834.5

p.Q510E

c.1528C>G