Varaico: Literature-Extracted Genetic Variants

Gene:MAFK
Variant:p.R62H

MAFK

269 papers

RefSeq Summary

The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is me...

Pfam Domains

bZIP_Mafaa 24–115UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

MAF bZIP transcription factor K

HGNC Alias Symbols

P18; NFE2U

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002360.4
p.R62H
c.185G>A
Surrounding Variants
1 paper
NM_002360.4
p.R62C
c.184C>T
1 paper
NM_002360.4
p.G63S
c.187G>A
1 paper
NM_002360.4
p.A65V
c.194C>T
1 paper
NM_002360.4
p.L59delFs
c.176delT
1 paper
NM_002360.4
p.A66T
c.196G>A
1 paper
NM_002360.4
p.T58_L59del2
c.172_176del6
2 papers
NM_002360.4
p.R57C
c.169C>T
2 papers
NM_002360.4
p.R56Q
c.167G>A
1 paper
NM_002360.4
p.R69C
c.205C>T
1 paper
NM_002360.4
p.R55delFs
c.165delT
1 paper
NM_002360.4
p.Q54L
c.161A>T
1 paper
NM_002360.4
p.I70delFs
c.210delC
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