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

31 papers

NM_002834.5

p.V428M

c.1282G>A

Surrounding Variants

10 papers

NM_002834.5

p.V428L

c.1282G>C

10 papers

NM_002834.5

p.V428L

c.1282G>T

2 papers

NM_002834.5

p.G427G

c.1281C>G

3 papers

NM_002834.5

p.P429S

c.1285C>T

4 papers

NM_002834.5

p.G427S

c.1279G>A

1 paper

NM_002834.5

p.P429L

c.1286C>T

3 papers

NM_002834.5

p.H426P

c.1277A>C

7 papers

NM_002834.5

p.H426R

c.1277A>G

2 papers

NM_002834.5

p.H426L

c.1277A>T

2 papers

NM_002834.5

p.S430R

c.1288A>C

3 papers

NM_002834.5

p.H426Y

c.1276C>T

1 paper

NM_002834.5

p.D425E

c.1275C>A