Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.Q200fs

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.Q200fs
c.598_599fs
Surrounding Variants
1 paper
NM_001039958.2
p.Q200delFs
c.599delA
1 paper
NM_001039958.2
p.Q198insFs
c.593_594ins5
1 paper
NM_001039958.2
p.G205insFs
c.614_615ins13
1 paper
NM_001039958.2
p.R207W
c.619A>T
1 paper
NM_001039958.2
p.G191G
c.573G>A
1 paper
NM_001039958.2
p.L210L
c.630G>C
4 papers
NM_001039958.2
p.G187G
c.561G>A
3 papers
NM_001039958.2
p.Q186Q
c.558G>A
5 papers
NM_001039958.2
p.Q186E
c.556C>G
2 papers
NM_001039958.2
p.G185A
c.554G>C
1 paper
NM_001039958.2
p.Q184Fs
c.552delinsTTTFs
1 paper
NM_001039958.2
p.Q184fs
c.550_551fs
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