Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L8R

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
1 paper
NM_000460.4
p.L8R
c.23T>G
Surrounding Variants
1 paper
NM_000460.4
p.V9L
c.25G>T
1 paper
NM_000460.4
p.V9M
c.25G>A
1 paper
NM_000460.4
p.L7delins
c.20delinsC
1 paper
NM_000460.4
p.L7delFs
c.19delG
1 paper
NM_000460.4
p.L7F
c.19C>T
1 paper
NM_000460.4
p.L6delFs
c.18delC
1 paper
NM_000460.4
p.M11insFs
c.31_32dupAT
1 paper
NM_000460.4
p.L12F
c.34C>T
1 paper
NM_000460.4
p.T15A
c.43A>G
1 paper
NM_000460.4
p.L18R
c.53T>G
1 paper
NM_000460.4
p.S21insFs
c.63dupC
1 paper
NM_000460.4
p.S22N
c.65G>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."