Varaico: Literature-Extracted Genetic Variants

Gene:MNT
Variant:p.P248L

MNT

178 papers

RefSeq Summary

The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Ma...

Pfam Domains

HLHaa 221–272UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MAX network transcriptional repressor

HGNC Alias Symbols

ROX; MXD6; MAD6; bHLHd3; lncRNA-HAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020310.3
p.P248L
c.743C>T
Surrounding Variants
1 paper
NM_020310.3
p.T242N
c.725C>A
1 paper
NM_020310.3
p.V224D
c.671T>A
1 paper
NM_020310.3
p.R222K
c.665G>A
1 paper
NM_020310.3
p.G218Splc
c.654-36C>A
1 paper
NM_020310.3
p.G217R
c.649G>C
1 paper
NM_020310.3
p.G217R
c.649G>A
1 paper
NM_020310.3
p.K214R
c.641A>G
1 paper
NM_020310.3
p.E211Q
c.631G>C
1 paper
NM_020310.3
p.A202V
c.605C>T
1 paper
NM_020310.3
p.P193insFs
c.579dupA
1 paper
NM_020310.3
p.P191L
c.572C>T
1 paper
NM_020310.3
p.L186L
c.556C>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."