Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.S108L

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
5 papers
NM_000460.4
p.S108L
c.323C>T
Surrounding Variants
1 paper
NM_000460.4
p.L102_S108insFs
c.304_323dup20
1 paper
NM_000460.4
p.G112fs
c.334_335fs
1 paper
NM_000460.4
p.G103E
c.308G>A
1 paper
NM_000460.4
p.L102P
c.305T>C
2 papers
NM_000460.4
p.L102L
c.304C>T
2 papers
NM_000460.4
p.Q101*
c.301C>T
10 papers
NM_000460.4
p.R99W
c.295C>T
8 papers
NM_000460.4
p.R119C
c.355C>T
1 paper
NM_000460.4
p.R119H
c.356G>A
1 paper
NM_000460.4
p.L120F
c.358C>T
1 paper
NM_000460.4
p.E93A
c.278A>C
1 paper
NM_000460.4
p.L125P
c.374T>C
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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."