Varaico: Literature-Extracted Genetic Variants

Gene:MNT
Variant:p.P414L

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
1 paper
NM_020310.3
p.P414L
c.1241C>T
Surrounding Variants
1 paper
NM_020310.3
p.P410L
c.1229C>T
1 paper
NM_020310.3
p.T407A
c.1219A>G
1 paper
NM_020310.3
p.Q399*
c.1195C>T
1 paper
NM_020310.3
p.T433T
c.1299G>T
1 paper
NM_020310.3
p.A376V
c.1127C>T
1 paper
NM_020310.3
p.T454A
c.1360A>G
1 paper
NM_020310.3
p.A468T
c.1402G>A
1 paper
NM_020310.3
p.P353L
c.1058C>T
1 paper
NM_020310.3
p.E345_D346insFs
c.1035_1036insC
1 paper
NM_020310.3
p.A484A
c.1452C>G
1 paper
NM_020310.3
p.S525A
c.1573T>G
1 paper
NM_020310.3
p.H554R
c.1661A>G
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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."