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.S430R

c.1290C>A

Surrounding Variants

2 papers

NM_002834.5

p.S430R

c.1290C>G

3 papers

NM_002834.5

p.D431N

c.1291G>A

2 papers

NM_002834.5

p.S430R

c.1288A>C

2 papers

NM_002834.5

p.P432S

c.1294C>T

1 paper

NM_002834.5

p.P429L

c.1286C>T

3 papers

NM_002834.5

p.P429S

c.1285C>T

1 paper

NM_002834.5

p.G434delFs

c.1301delG

2 papers

NM_002834.5

p.G433R

c.1297G>A

2 papers

NM_002834.5

p.G433W

c.1297G>T

31 papers

NM_002834.5

p.V428M

c.1282G>A

10 papers

NM_002834.5

p.V428L

c.1282G>C

10 papers

NM_002834.5

p.V428L

c.1282G>T