Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.L125V

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
4 papers
NM_001039958.2
p.L125V
c.373C>G
Surrounding Variants
1 paper
NM_001039958.2
p.L127L
c.379C>T
1 paper
NM_001039958.2
p.E123K
c.367G>A
2 papers
NM_001039958.2
p.E123*
c.367G>T
1 paper
NM_001039958.2
p.Q117R
c.350A>G
1 paper
NM_001039958.2
p.G116R
c.346G>C
1 paper
NM_001039958.2
p.H134L
c.401A>T
1 paper
NM_001039958.2
p.L112insFs
c.335_336insT
1 paper
NM_001039958.2
p.S111Y
c.332C>A
1 paper
NM_001039958.2
p.R106S
c.316C>A
7 papers
NM_001039958.2
p.E103*
c.307G>T
3 papers
NM_001039958.2
p.H102Q
c.306C>A
3 papers
NM_001039958.2
p.H102Q
c.306C>G
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