Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.M1T

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
3 papers
NM_000460.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_000460.4
p.M1I
c.3G>T
1 paper
NM_000460.4
p.M1_E2insFs
c.3_4insA
1 paper
NM_000460.4
p.M1I
c.3G>C
1 paper
NM_000460.4
p.E2fs
c.4_5fs
1 paper
NM_000460.4
p.M1_E2delFs
c.2_5del4
1 paper
NM_000460.4
p.E2del1
c.4_5delCTC
3 papers
NM_000460.4
p.E5K
c.13G>A
NM_001290003.1
p.E145K
c.433G>A
10 papers
NM_000460.4
p.E5Splc
c.13+1G>C
3 papers
NM_000460.4
p.E5Splc
c.13+1G>A
2 papers
NM_000460.4
p.E5Splc
c.13+2T>C
1 paper
NM_000460.4
p.E5Splc
c.13+3G>A
1 paper
NM_000460.4
p.E5Splc
c.13+5G>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."