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

118 papers

NM_002834.5

p.G503R

c.1507G>C

NM_001330437.2

p.G507R

c.1519G>C

Surrounding Variants

116 papers

NM_002834.5

p.G503R

c.1507G>A

NM_001330437.2

p.G507R

c.1519G>A

4 papers

NM_002834.5

p.G503W

c.1507G>T

1 paper

NM_002834.5

p.S502S

c.1506A>G

61 papers

NM_002834.5

p.G503E

c.1508G>A

100 papers

NM_002834.5

p.G503A

c.1508G>C

120 papers

NM_002834.5

p.G503V

c.1508G>T

87 papers

NM_002834.5

p.S502L

c.1505C>T

3 papers

NM_002834.5

p.M504L

c.1510A>C

136 papers

NM_002834.5

p.M504V

c.1510A>G

3 papers

NM_002834.5

p.M504L

c.1510A>T

36 papers

NM_002834.5

p.S502T

c.1504T>A

65 papers

NM_002834.5

p.S502P

c.1504T>C