Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.Y69H

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
1 paper
NM_005373.3
p.Y69H
c.205T>C
Surrounding Variants
1 paper
NM_005373.3
p.P70delFs
c.209delC
1 paper
NM_005373.3
p.P70fs
c.208_209fs
1 paper
NM_005373.3
p.P70R
c.209C>G
11 papers
NM_005373.3
p.P70L
c.209C>T
1 paper
NM_005373.3
p.R71G
c.211C>G
2 papers
NM_005373.3
p.R71W
c.211C>T
3 papers
NM_005373.3
p.R71Splc
c.212+1G>A
1 paper
NM_005373.3
p.L65M
c.193C>A
3 papers
NM_005373.3
p.R71Splc
c.212+5G>A
1 paper
NM_005373.3
p.Q64*
c.190C>T
7 papers
NM_005373.3
p.Y63*
c.189C>A
6 papers
NM_005373.3
p.Y63*
c.189C>G
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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."