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

1 paper

NM_002834.5

p.Q79delFs

c.235delC

Surrounding Variants

2 papers

NM_002834.5

p.V78A

c.233T>C

5 papers

NM_002834.5

p.V78I

c.232G>A

1 paper

NM_002834.5

p.V78insFs

c.232_233ins5

2 papers

NM_002834.5

p.V78fs

c.232_233fs

4 papers

NM_002834.5

p.Q79K

c.235C>A

1 paper

NM_002834.5

p.L77F

c.231G>C

1 paper

NM_002834.5

p.L77F

c.231G>T

17 papers

NM_002834.5

p.Q79P

c.236A>C

141 papers

NM_002834.5

p.Q79R

c.236A>G

1 paper

NM_002834.5

p.V78delFs

c.232delG

4 papers

NM_002834.5

p.Q79H

c.237G>C

4 papers

NM_002834.5

p.Q79H

c.237G>T