Varaico: Literature-Extracted Genetic Variants

Gene:PTPN3
Variant:p.D872E

PTPN3

77 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

FERM_Naa 33–97UCSCFERM N-terminal domain
FERM_Maa 112–222UCSCFERM central domain
FERM_Caa 226–316UCSCFERM C-terminal PH-like domain
PDZaa 510–595UCSCPDZ domain
Y_phosphataseaa 670–900UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 3

HGNC Alias Symbol

PTPH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002829.4
p.D872E
c.2616T>G
Surrounding Variants
1 paper
NM_002829.4
p.D872E
c.2616T>A
1 paper
NM_002829.4
p.I873N
c.2618T>A
1 paper
NM_002829.4
p.R875*
c.2623C>T
1 paper
NM_002829.4
p.R864M
c.2591G>T
3 papers
NM_002829.4
p.C842S
c.2525G>C
3 papers
NM_002829.4
p.C842S
c.2524T>A
1 paper
NM_002829.4
p.P837S
c.2509C>T
1 paper
NM_002829.4
p.V833M
c.2497G>A
1 paper
NM_001145372.2
p.G481S
c.1441G>A
1 paper
NM_002829.4
p.H812L
c.2435A>T
2 papers
NM_002829.4
p.D811E
c.2433C>G
2 papers
NM_002829.4
p.D811E
c.2433C>A
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