Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.K30R

BACH1

175 papers

RefSeq Summary

This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-br...

Pfam Domains

BTBaa 24–129UCSCBTB/POZ domain
bZIP_Mafaa 528–623UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

BACH transcriptional regulator 1

HGNC Alias Symbols

BACH-1; BTBD24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001186.4
p.K30R
c.89A>G
Surrounding Variants
1 paper
NM_001186.4
p.D31insFs
c.91_92insT
1 paper
NM_001186.4
p.K29R
c.86A>G
1 paper
NM_001186.4
p.Q27insFs
c.80_81insT
1 paper
NM_001186.4
p.D35D
c.105T>C
1 paper
NM_001186.4
p.I38V
c.112A>G
1 paper
NM_001186.4
p.L22V
c.64C>G
1 paper
NM_001186.4
p.V20I
c.58G>A
1 paper
NM_001186.4
p.N19S
c.56A>G
1 paper
NM_001186.4
p.Q43R
c.128A>G
1 paper
NM_001186.4
p.H16L
c.47A>T
1 paper
NM_001186.4
p.R44Q
c.131G>A
1 paper
NM_001186.4
p.R46C
c.136C>T
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