Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.A64T

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
Selected Variant
1 paper
NM_001039958.2
p.A64T
c.190G>A
Surrounding Variants
2 papers
NM_001039958.2
p.A64E
c.191C>A
1 paper
NM_001039958.2
p.E65fs
c.193_194fs
3 papers
NM_001039958.2
p.R62Q
c.185G>A
2 papers
NM_001039958.2
p.A66G
c.197C>G
3 papers
NM_001039958.2
p.S61_R62delFs
c.183_186del4
1 paper
NM_001039958.2
p.S60R
c.180C>A
1 paper
NM_001039958.2
p.S60R
c.180C>G
1 paper
NM_001039958.2
p.S60R
c.178A>C
5 papers
NM_001039958.2
p.S60_R62del0
c.178_186del9
1 paper
NM_001039958.2
p.R73P
c.218G>C
1 paper
NM_001039958.2
p.R75_G81delFs
c.223_241del19
1 paper
NM_001039958.2
p.G81*
c.241G>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."