Varaico: Literature-Extracted Genetic Variants

Gene:MXD1
Variant:p.K80E

MXD1

49 papers

RefSeq Summary

This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiat...

Pfam Domains

HLHaa 57–109UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MAX dimerization protein 1

HGNC Alias Symbols

MAD1; bHLHc58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002357.4
p.K80E
c.238A>G
Surrounding Variants
1 paper
NM_002357.4
p.K80R
c.239A>G
1 paper
NM_002357.4
p.H92R
c.275A>G
1 paper
NM_002357.4
p.K102R
c.305A>G
1 paper
NM_002357.4
p.K114N
c.342A>C
1 paper
NM_002357.4
p.K114N
c.342A>T
1 paper
NM_002357.4
p.A115V
c.344C>T
1 paper
NM_002357.4
p.V116I
c.346G>A
1 paper
NM_002357.4
p.Q123R
c.368A>G
1 paper
NM_002357.4
p.H128Y
c.382C>T
1 paper
NM_002357.4
p.E139Q
c.415G>C
1 paper
NM_002357.4
p.G147D
c.440G>A
1 paper
NM_002357.4
p.T149S
c.445A>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."