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

1 paper

NM_002834.5

p.A452V

c.1355C>T

Surrounding Variants

1 paper

NM_002834.5

p.A452E

c.1355C>A

1 paper

NM_002834.5

p.A452_G453ins9

c.1354_1358ins27

5 papers

NM_002834.5

p.A452S

c.1354G>T

3 papers

NM_002834.5

p.G453E

c.1358G>A

1 paper

NM_002834.5

p.P454T

c.1360C>A

3 papers

NM_002834.5

p.P454S

c.1360C>T

7 papers

NM_002834.5

p.P454L

c.1361C>T

1 paper

NM_002834.5

p.P454_V455del1

c.1362_1364delGGT

2 papers

NM_002834.5

p.M450T

c.1349T>C

2 papers

NM_002834.5

p.M450V

c.1348A>G

1 paper

NM_002834.5

p.I449I

c.1347C>A

2 papers

NM_002834.5

p.I449F

c.1345A>T