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

3 papers

NM_002834.5

p.H426Y

c.1276C>T

Surrounding Variants

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

1 paper

NM_002834.5

p.D425E

c.1275C>A

1 paper

NM_002834.5

p.D425E

c.1275C>G

22 papers

NM_002834.5

p.D425A

c.1274A>C

5 papers

NM_002834.5

p.D425N

c.1273G>A

4 papers

NM_002834.5

p.G427S

c.1279G>A

3 papers

NM_002834.5

p.D425H

c.1273G>C

5 papers

NM_002834.5

p.D425Y

c.1273G>T

2 papers

NM_002834.5

p.G427G

c.1281C>G

3 papers

NM_002834.5

p.P424L

c.1271C>T