Varaico: Literature-Extracted Genetic Variants

Gene:MSC
Variant:p.G16A

MSC

55 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodi...

Pfam Domains

HLHaa 108–160UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

musculin

HGNC Alias Symbols

ABF-1; bHLHa22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005098.4
p.G16A
c.47G>C
Surrounding Variants
1 paper
NM_005098.4
p.Q18L
c.53A>T
1 paper
NM_005098.4
p.V6M
c.16G>A
1 paper
NM_005098.4
p.K27T
c.80A>C
1 paper
NM_005098.4
p.M1del1
c.1_2delCAT
1 paper
NM_005098.4
p.R58G
c.172C>G
1 paper
NM_005098.4
p.A78delFs
c.232delC
1 paper
NM_005098.4
p.G80S
c.238G>A
1 paper
NM_005098.4
p.G81S
c.241G>A
1 paper
NM_005098.4
p.G89D
c.266G>A
1 paper
NM_005098.4
p.E103insFs
c.308dupA
2 papers
NM_005098.4
p.E116K
c.346G>A
1 paper
NM_005098.4
p.Y155F
c.464A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."