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.T507S

c.1519A>T

Surrounding Variants

6 papers

NM_002834.5

p.T507A

c.1519A>G

76 papers

NM_002834.5

p.T507K

c.1520C>A

5 papers

NM_002834.5

p.T507I

c.1520C>T

2 papers

NM_002834.5

p.Q506H

c.1518G>C

2 papers

NM_002834.5

p.Q506H

c.1518G>T

97 papers

NM_002834.5

p.Q506P

c.1517A>C

7 papers

NM_002834.5

p.Q506R

c.1517A>G

1 paper

NM_002834.5

p.Q506E

c.1516C>G

5 papers

NM_002834.5

p.Q506*

c.1516C>T

1 paper

NM_002834.5

p.E508*

c.1522G>T

1 paper

NM_002834.5

p.V505V

c.1515C>T

1 paper

NM_002834.5

p.V505A

c.1514T>C