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.Q271K

c.811C>A

Surrounding Variants

2 papers

NM_002834.5

p.Q271E

c.811C>G

3 papers

NM_002834.5

p.Q271P

c.812A>C

1 paper

NM_002834.5

p.Q271R

c.812A>G

1 paper

NM_002834.5

p.Q271L

c.812A>T

1 paper

NM_002834.5

p.R270S

c.810G>C

1 paper

NM_002834.5

p.R270S

c.810G>T

1 paper

NM_002834.5

p.Q271H

c.813A>C

1 paper

NM_002834.5

p.Q271H

c.813A>T

1 paper

NM_002834.5

p.E272_N273del2

c.814_818del6

1 paper

NM_002834.5

p.R270K

c.809G>A

1 paper

NM_002834.5

p.R270T

c.809G>C

1 paper

NM_002834.5

p.R270M

c.809G>T