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.G163D

c.488G>A

Surrounding Variants

1 paper

NM_002834.5

p.G163_V170delFs

c.489_510del22

5 papers

NM_002834.5

p.G163S

c.487G>A

1 paper

NM_002834.5

p.G163R

c.487G>C

2 papers

NM_002834.5

p.G163C

c.487G>T

1 paper

NM_002834.5

p.K164E

c.490A>G

1 paper

NM_002834.5

p.S165A

c.493T>G

1 paper

NM_002834.5

p.S165S

c.495T>A

2 papers

NM_002834.5

p.S160N

c.479G>A

1 paper

NM_002834.5

p.E159G

c.476A>G

1 paper

NM_002834.5

p.E159V

c.476A>T

4 papers

NM_002834.5

p.V167A

c.500T>C

1 paper

NM_002834.5

p.E159Q

c.475G>C