Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R5I

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
1 paper
NM_002834.5
p.R5I
c.14G>T
Surrounding Variants
1 paper
NM_002834.5
p.R5K
c.14G>A
1 paper
NM_002834.5
p.R5T
c.14G>C
1 paper
NM_002834.5
p.R5S
c.15A>C
1 paper
NM_002834.5
p.R5S
c.15A>T
1 paper
NM_002834.5
p.R5Splc
c.14+1G>A
24 papers
NM_002834.5
p.R4R
c.12G>A
20 papers
NM_002834.5
p.R4R
c.12G>C
3 papers
NM_002834.5
p.R4Q
c.11G>A
2 papers
NM_002834.5
p.R4P
c.11G>C
2 papers
NM_002834.5
p.R4L
c.11G>T
4 papers
NM_002834.5
p.R4G
c.10C>G
2 papers
NM_002834.5
p.R4W
c.10C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."