Varaico: Literature-Extracted Genetic Variants

Gene:MXD3

MXD3

34 papers

RefSeq Summary

This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specifi...

Pfam Domains

HLHaa 58–110UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MAX dimerization protein 3

HGNC Alias Symbols

MAD3; bHLHc13

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
2 papers
NM_031300.4
p.R68H
c.203G>A
1 paper
NM_031300.4
p.M1insFs
c.3dupG
1 paper
NM_031300.4
p.A5D
c.14C>A
1 paper
NM_031300.4
p.A14T
c.40G>A
1 paper
NM_031300.4
p.R20H
c.59G>A
1 paper
NM_031300.4
p.R21H
c.62G>A
1 paper
NM_031300.4
p.P48fs
c.142_143fs
1 paper
NM_031300.4
p.Q50fs
c.148_149fs
1 paper
NM_031300.4
p.R59W
c.175C>T
1 paper
NM_031300.4
p.E66Q
c.196G>C
1 paper
NM_031300.4
p.E66K
c.196G>A
1 paper
NM_031300.4
p.E66D
c.198G>T
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