Varaico: Literature-Extracted Genetic Variants

Gene:MXD1
Variant:p.A16P

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.A16P
c.46G>C
Surrounding Variants
1 paper
NM_002357.4
p.Y18F
c.53A>T
1 paper
NM_002357.4
p.L12P
c.35T>C
1 paper
NM_002357.4
p.E23K
c.67G>A
1 paper
NM_002357.4
p.M1insFs
c.3dupG
1 paper
NM_002357.4
p.M1insFs
c.2_3ins4
1 paper
NM_002357.4
p.H61delFs
c.181delC
1 paper
NM_002357.4
p.E65_K66del1
c.194_196delAGA
1 paper
NM_002357.4
p.N67S
c.200A>G
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