Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L43F

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.L43F
c.127C>T
Surrounding Variants
1 paper
NM_000460.4
p.V42G
c.125T>G
1 paper
NM_000460.4
p.S45N
c.134G>A
1 paper
NM_000460.4
p.R46K
c.137G>A
1 paper
NM_000460.4
p.L47_S48Splc
c.141+1G>C
13 papers
NM_000460.4
p.R38C
c.112C>T
1 paper
NM_000460.4
p.L37H
c.110T>A
1 paper
NM_000460.4
p.L47_S48Splc
c.141+5G>C
1 paper
NM_000460.4
p.K35delFs
c.104delT
1 paper
NM_000460.4
p.S34T
c.101G>C
1 paper
NM_000460.4
p.S34C
c.100A>T
1 paper
NM_000460.4
p.V32V
c.96C>A
7 papers
NM_000460.4
p.R31*
c.91C>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."