Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L188P

THPO

235 papers

RefSeq Summary

Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryoc...

Pfam Domains

EPO_TPOaa 25–175UCSCErythropoietin/thrombopoietin

Gene Aliases

HGNC Name

thrombopoietin

HGNC Previous Symbol

MGDF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000460.4
p.L188P
c.563T>C
Surrounding Variants
1 paper
NM_000460.4
p.L190I
c.568C>A
1 paper
NM_000460.4
p.S184R
c.552C>G
1 paper
NM_000460.4
p.S184R
c.552C>A
1 paper
NM_000460.4
p.S184R
c.550A>C
1 paper
NM_000460.4
p.P183A
c.547C>G
1 paper
NM_000460.4
p.T180R
c.539C>G
1 paper
NM_000460.4
p.T180S
c.538A>T
1 paper
NM_000460.4
p.P178T
c.532C>A
1 paper
NM_000460.4
p.T170_A176delins
c.509_526delinsACTGGT
1 paper
NM_000460.4
p.G201E
c.602G>A
1 paper
NM_000460.4
p.R175delFs
c.523delG
2 papers
NM_000460.4
p.R175W
c.523C>T
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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."