Varaico: Literature-Extracted Genetic Variants

Gene:PTPN7
Variant:p.R8R

PTPN7

33 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

Y_phosphataseaa 119–349UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 7

HGNC Alias Symbols

HEPTP; LC-PTP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002832.4
p.R8R
c.24C>G
Surrounding Variants
1 paper
NM_002832.4
p.A11E
c.32C>A
1 paper
NM_002832.4
p.G43D
c.128G>A
1 paper
NM_002832.4
p.V46L
c.136G>T
1 paper
NM_002832.4
p.A47G
c.140C>G
1 paper
NM_002832.4
p.L50insFs
c.149dupT
1 paper
NM_002832.4
p.E69G
c.206A>G
1 paper
NM_002832.4
p.R76C
c.226C>T
1 paper
NM_002832.4
p.R76H
c.227G>A
1 paper
NM_002832.4
p.L75_R76delFs
c.224_227del4
1 paper
NM_002832.4
p.P81T
c.241C>A
1 paper
NM_002832.4
p.R84H
c.251G>A
1 paper
NM_002832.4
p.A86V
c.257C>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."