Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.G183A

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.G183A
c.548G>C
Surrounding Variants
1 paper
NM_001039958.2
p.Q182_G183delins
c.546_548delinsGAC
5 papers
NM_001039958.2
p.G185_Q188del0
c.553_564del12
1 paper
NM_001039958.2
p.Q184fs
c.550_551fs
1 paper
NM_001039958.2
p.Q182_G183del1
c.545_547delAAG
1 paper
NM_001039958.2
p.Q182_Q184delins
c.544_552delinsTTT
1 paper
NM_001039958.2
p.Q184Fs
c.552delinsTTTFs
2 papers
NM_001039958.2
p.G185A
c.554G>C
5 papers
NM_001039958.2
p.Q186E
c.556C>G
3 papers
NM_001039958.2
p.Q186Q
c.558G>A
4 papers
NM_001039958.2
p.G187G
c.561G>A
1 paper
NM_001039958.2
p.G183_G195del0
c.549_584del36
4 papers
NM_001039958.2
p.E178_Q186del0
c.533_556del24
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