Varaico: Literature-Extracted Genetic Variants

Gene:MESP2

MESP2

83 papers

RefSeq Summary

This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. ...

Pfam Domains

HLHaa 82–136UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

mesoderm posterior bHLH transcription factor 2

HGNC Alias Symbols

SCDO2; bHLHc6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
7 papers
NM_001039958.2
p.E103*
c.307G>T
5 papers
NM_001039958.2
p.S60_R62del0
c.178_186del9
5 papers
NM_001039958.2
p.E178_Q186del9
c.532_557del27
5 papers
NM_001039958.2
p.G185_Q188del0
c.553_564del12
5 papers
NM_001039958.2
p.Q186E
c.556C>G
4 papers
NM_001039958.2
p.L125V
c.373C>G
4 papers
NM_001039958.2
p.E178_Q186del0
c.533_556del24
4 papers
NM_001039958.2
p.G187G
c.561G>A
3 papers
NM_001039958.2
p.S61_R62delFs
c.183_186del4
3 papers
NM_001039958.2
p.R62Q
c.185G>A
3 papers
NM_001039958.2
p.A86_S87delFs
c.258_261del4
3 papers
NM_001039958.2
p.H102Q
c.306C>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."