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

65 papers

NM_002834.5

p.S502P

c.1504T>C

Surrounding Variants

36 papers

NM_002834.5

p.S502T

c.1504T>A

30 papers

NM_002834.5

p.S502A

c.1504T>G

1 paper

NM_002834.5

p.S502delins

c.1504_1505delinsAA

87 papers

NM_002834.5

p.S502L

c.1505C>T

1 paper

NM_002834.5

p.R501R

c.1503G>A

1 paper

NM_002834.5

p.S502S

c.1506A>G

42 papers

NM_002834.5

p.R501K

c.1502G>A

1 paper

NM_002834.5

p.R501G

c.1501A>G

1 paper

NM_002834.5

p.R501delFs

c.1502delG

116 papers

NM_002834.5

p.G503R

c.1507G>A

NM_001330437.2

p.G507R

c.1519G>A

118 papers

NM_002834.5

p.G503R

c.1507G>C

NM_001330437.2

p.G507R

c.1519G>C

4 papers

NM_002834.5

p.G503W

c.1507G>T