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.K129N

c.387A>T

Surrounding Variants

3 papers

NM_002834.5

p.K129N

c.387A>C

1 paper

NM_002834.5

p.K129R

c.386A>G

1 paper

NM_002834.5

p.G130R

c.388G>A

1 paper

NM_002834.5

p.G130R

c.388G>C

1 paper

NM_002834.5

p.E128A

c.383A>C

4 papers

NM_002834.5

p.K131R

c.392A>G

2 papers

NM_002834.5

p.K131I

c.392A>T

2 papers

NM_002834.5

p.E128K

c.382G>A

2 papers

NM_002834.5

p.K131N

c.393A>T

2 papers

NM_002834.5

p.T127S

c.380C>G

3 papers

NM_002834.5

p.T127I

c.380C>T

1 paper

NM_002834.5

p.H132Y

c.394C>T