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.I463L

c.1387A>C

Surrounding Variants

1 paper

NM_002834.5

p.I463_G464del1

c.1388_1390delTTG

1 paper

NM_002834.5

p.G462G

c.1386A>G

1 paper

NM_002834.5

p.I463S

c.1388T>G

3 papers

NM_002834.5

p.G462E

c.1385G>A

1 paper

NM_002834.5

p.G462A

c.1385G>C

2 papers

NM_002834.5

p.G462V

c.1385G>T

1 paper

NM_002834.5

p.G462R

c.1384G>A

1 paper

NM_002834.5

p.G464S

c.1390G>A

3 papers

NM_002834.5

p.G464R

c.1390G>C

3 papers

NM_002834.5

p.G464C

c.1390G>T

3 papers

NM_002834.5

p.G464D

c.1391G>A

69 papers

NM_002834.5

p.G464A

c.1391G>C