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.E90K

c.268G>A

Surrounding Variants

12 papers

NM_002834.5

p.E90Q

c.268G>C

1 paper

NM_002834.5

p.E90*

c.268G>T

1 paper

NM_002834.5

p.E90D

c.270G>C

1 paper

NM_002834.5

p.E90D

c.270G>T

2 papers

NM_002834.5

p.K91E

c.271A>G

1 paper

NM_002834.5

p.K91delFs

c.272_273delAG

4 papers

NM_002834.5

p.K91R

c.272A>G

2 papers

NM_002834.5

p.K91K

c.273G>A

3 papers

NM_002834.5

p.K91N

c.273G>C

3 papers

NM_002834.5

p.K91N

c.273G>T

3 papers

NM_002834.5

p.L88I

c.262T>A

1 paper

NM_002834.5

p.L88fs

c.262_263fs