Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.V240fs

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
2 papers
NM_001039958.2
p.V240fs
c.718_719fs
Surrounding Variants
1 paper
NM_001039958.2
p.R238fs
c.712_713fs
3 papers
NM_001039958.2
p.V240delFs
c.718delG
2 papers
NM_001039958.2
p.D242N
c.724G>A
1 paper
NM_001039958.2
p.E234*
c.700G>T
1 paper
NM_001039958.2
p.W246*
c.737G>A
1 paper
NM_001039958.2
p.W246*
c.738G>A
1 paper
NM_001039958.2
p.Q230*
c.688C>T
3 papers
NM_001039958.2
p.P258_S261del4
c.772_782del12
1 paper
NM_001039958.2
p.W220*
c.660G>A
1 paper
NM_001039958.2
p.W220*
c.659G>A
1 paper
NM_001039958.2
p.L210L
c.630G>C
1 paper
NM_001039958.2
p.R207W
c.619A>T
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