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

2 papers

NM_002834.5

p.Q500R

c.1499A>G

Surrounding Variants

4 papers

NM_002834.5

p.Q500E

c.1498C>G

2 papers

NM_002834.5

p.Q500H

c.1500G>C

2 papers

NM_002834.5

p.Q500H

c.1500G>T

1 paper

NM_002834.5

p.R501G

c.1501A>G

1 paper

NM_002834.5

p.R501delFs

c.1502delG

1 paper

NM_002834.5

p.Q500_R501delFs

c.1498_1502del5

8 papers

NM_002834.5

p.S499F

c.1496C>T

42 papers

NM_002834.5

p.R501K

c.1502G>A

1 paper

NM_002834.5

p.R501R

c.1503G>A

2 papers

NM_002834.5

p.S499T

c.1495T>A

3 papers

NM_002834.5

p.S499P

c.1495T>C

36 papers

NM_002834.5

p.S502T

c.1504T>A