Varaico: Literature-Extracted Genetic Variants

Gene:MNT
Variant:p.P148L

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.P148L
c.443C>T
Surrounding Variants
1 paper
NM_020310.3
p.P144S
c.430C>T
1 paper
NM_020310.3
p.V143L
c.427G>C
1 paper
NM_020310.3
p.A155_T156insG
c.463_467ins3
1 paper
NM_020310.3
p.R140R
c.418A>C
1 paper
NM_020310.3
p.P159S
c.475C>T
1 paper
NM_020310.3
p.L137_P138insT
c.409_413ins3
1 paper
NM_020310.3
p.N160S
c.479A>G
1 paper
NM_020310.3
p.K132R
c.395A>G
1 paper
NM_020310.3
p.L129V
c.385C>G
1 paper
NM_020310.3
p.T175S
c.523A>T
1 paper
NM_020310.3
p.Q120L
c.359A>T
2 papers
NM_020310.3
p.R119C
c.355C>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."