Varaico: Literature-Extracted Genetic Variants

Gene:MESP1
Variant:p.P111L

MESP1

46 papers

Pfam Domains

HLHaa 83–137UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

mesoderm posterior bHLH transcription factor 1

HGNC Alias Symbols

MGC10676; bHLHc5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018670.4
p.P111L
c.332C>T
Surrounding Variants
1 paper
NM_018670.4
p.A116P
c.346G>C
1 paper
NM_018670.4
p.Q118*
c.352C>T
1 paper
NM_018670.4
p.E104*
c.310G>T
3 papers
NM_018670.4
p.E104K
c.310G>A
5 papers
NM_018670.4
p.L120P
c.359T>C
1 paper
NM_018670.4
p.A99V
c.296C>T
1 paper
NM_018670.4
p.E124*
c.370G>T
1 paper
NM_018670.4
p.E91A
c.272A>C
1 paper
NM_018670.4
p.R90W
c.268C>T
1 paper
NM_018670.4
p.A87T
c.259G>A
1 paper
NM_018670.4
p.S146G
c.436A>G
2 papers
NM_018670.4
p.S146delFs
c.436_437delCT
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