Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L269fs

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.L269fs
c.805_806fs
Surrounding Variants
1 paper
NM_000460.4
p.L269insFs
c.805dupC
1 paper
NM_000460.4
p.L269P
c.806T>C
1 paper
NM_000460.4
p.S265insFs
c.793dupT
1 paper
NM_000460.4
p.P264delFs
c.792delG
1 paper
NM_000460.4
p.D273D
c.819C>T
1 paper
NM_000460.4
p.I274V
c.820A>G
1 paper
NM_000460.4
p.S275delFs
c.825delG
1 paper
NM_000460.4
p.S276fs
c.826_827fs
1 paper
NM_000460.4
p.G259R
c.775G>C
1 paper
NM_000460.4
p.G259R
c.775G>A
2 papers
NM_000460.4
p.R258P
c.773G>C
1 paper
NM_000460.4
p.G282S
c.844G>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."