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

3 papers

NM_002834.5

p.Q408_G409Splc

c.1225-1G>A

Surrounding Variants

4 papers

NM_002834.5

p.G409W

c.1225G>T

2 papers

NM_002834.5

p.G409E

c.1226G>A

15 papers

NM_002834.5

p.G409A

c.1226G>C

1 paper

NM_002834.5

p.G409V

c.1226G>T

1 paper

NM_002834.5

p.N410T

c.1229A>C

1 paper

NM_002834.5

p.T411A

c.1231A>G

18 papers

NM_002834.5

p.T411M

c.1232C>T

1 paper

NM_002834.5

p.T411Fs

c.1232_1233delinsAFs

1 paper

NM_002834.5

p.E412del1

c.1234_1235delGAG

3 papers

NM_002834.5

p.E412K

c.1234G>A

5 papers

NM_002834.5

p.E412G

c.1235A>G

1 paper

NM_002834.5

p.R413_T414ins*

c.1237_1241ins3