Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.Q516*

MPL

1,557 papers

RefSeq Summary

In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the huma...

Pfam Domains

EpoR_lig-bindaa 25–128UCSCErythropoietin receptor, ligand binding

Gene Aliases

HGNC Name

MPL proto-oncogene, thrombopoietin receptor

HGNC Alias Symbols

CD110; TPOR; THPOR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005373.3
p.Q516*
c.1546C>T
Surrounding Variants
1 paper
NM_005373.3
p.Q516K
c.1546C>A
8 papers
NM_005373.3
p.Q516E
c.1546C>G
2 papers
NM_005373.3
p.Q516R
c.1547A>G
15 papers
NM_005373.3
p.W515*
c.1545G>A
2 papers
NM_005373.3
p.W515C
c.1545G>C
1 paper
NM_005373.3
p.W515Fs
c.1545delinsGGCCTCAGCFs
2 papers
NM_005373.3
p.W515C
c.1545G>T
16 papers
NM_005373.3
p.W515*
c.1544G>A
1 paper
NM_005373.3
p.W515Fs
c.1544delinsAAFs
74 papers
NM_005373.3
p.W515S
c.1544G>C
598 papers
NM_005373.3
p.W515L
c.1544G>T
113 papers
NM_005373.3
p.W515R
c.1543T>A
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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."