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.R421Q

c.1262G>A

Surrounding Variants

2 papers

NM_002834.5

p.R421W

c.1261C>T

2 papers

NM_002834.5

p.T422I

c.1265C>T

2 papers

NM_002834.5

p.F420I

c.1258T>A

1 paper

NM_002834.5

p.H419R

c.1256A>G

3 papers

NM_002834.5

p.W423L

c.1268G>T

3 papers

NM_002834.5

p.H419Y

c.1255C>T

2 papers

NM_002834.5

p.P424_G427del4

c.1270_1280del12

1 paper

NM_002834.5

p.Y418*

c.1254C>A

1 paper

NM_002834.5

p.Y418*

c.1254C>G

4 papers

NM_002834.5

p.P424S

c.1270C>T

3 papers

NM_002834.5

p.P424L

c.1271C>T

1 paper

NM_002834.5

p.Y418_F420ins1

c.1253_1258dup6