Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.Q319H

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
2 papers
NM_000460.4
p.Q319H
c.957G>C
Surrounding Variants
2 papers
NM_000460.4
p.Q319H
c.957G>T
1 paper
NM_000460.4
p.V318A
c.953T>C
1 paper
NM_000460.4
p.V318D
c.953T>A
2 papers
NM_000460.4
p.T315I
c.944C>T
1 paper
NM_000460.4
p.P325L
c.974C>T
1 paper
NM_000460.4
p.T333A
c.997A>G
1 paper
NM_000460.4
p.T305M
c.914C>T
1 paper
NM_000460.4
p.T335Fs
c.1003delinsGAFs
1 paper
NM_000460.4
p.T297A
c.889A>G
1 paper
NM_000460.4
p.Y343F
c.1028A>T
1 paper
NM_000460.4
p.P286A
c.856C>G
1 paper
NM_000460.4
p.S283F
c.848C>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."