Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.H142_K143delFs

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.H142_K143delFs
c.424_427del4
Surrounding Variants
1 paper
NM_000460.4
p.P145L
c.434C>T
1 paper
NM_000460.4
p.A147D
c.440C>A
1 paper
NM_000460.4
p.G137A
c.410G>C
1 paper
NM_000460.4
p.P134H
c.401C>A
6 papers
NM_000460.4
p.R157*
c.469C>T
2 papers
NM_001290022.1
p.R157C
c.469C>T
NM_000460.4
p.R161C
c.481C>T
1 paper
NM_001290026.1
p.P157S
c.469C>T
2 papers
NM_000460.4
p.T170I
c.509C>T
1 paper
NM_000460.4
p.V173I
c.517G>A
1 paper
NM_000460.4
p.V173G
c.518T>G
2 papers
NM_000460.4
p.R175W
c.523C>T
1 paper
NM_000460.4
p.R175delFs
c.523delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."