Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.N248D

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.N248D
c.742A>G
Surrounding Variants
1 paper
NM_000460.4
p.N248T
c.743A>C
1 paper
NM_000460.4
p.Y246_L247insFs
c.738_739insTG
1 paper
NM_000460.4
p.R249S
c.747G>T
1 paper
NM_000460.4
p.R249S
c.747G>C
1 paper
NM_000460.4
p.G245R
c.733G>C
1 paper
NM_000460.4
p.G245R
c.733G>A
2 papers
NM_000460.4
p.H251Q
c.753C>G
2 papers
NM_000460.4
p.H251Q
c.753C>A
1 paper
NM_000460.4
p.E252K
c.754G>A
1 paper
NM_000460.4
p.L254L
c.760T>C
1 paper
NM_000460.4
p.L254S
c.761T>C
2 papers
NM_000460.4
p.R258P
c.773G>C
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."