Varaico: Literature-Extracted Genetic Variants

Gene:MXD4
Variant:p.A98S

MXD4

26 papers

RefSeq Summary

This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. T...

Pfam Domains

HLHaa 54–106UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MAX dimerization protein 4

HGNC Alias Symbols

MAD4; MSTP149; MST149; bHLHc12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006454.3
p.A98S
c.292G>T
Surrounding Variants
1 paper
NM_006454.3
p.T87P
c.259A>C
1 paper
NM_006454.3
p.R66*
c.196C>T
1 paper
NM_006454.3
p.R66G
c.196C>G
1 paper
NM_006454.3
p.R110C
c.328C>T
1 paper
NM_006454.3
p.R111Q
c.332G>A
2 papers
NM_006454.3
p.E117V
c.350A>T
1 paper
NM_006454.3
p.K127M
c.380A>T
1 paper
NM_006454.3
p.G189A
c.566G>C
1 paper
NM_006454.3
p.K63K
c.189G>A
2 papers
NM_006454.3
p.E62K
c.184G>A
1 paper
NM_006454.3
p.E60Q
c.178G>C
1 paper
NM_006454.3
p.R55Splc
c.165-1046C>T
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