Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.F123delFs

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.F123delFs
c.368_369delTT
Surrounding Variants
1 paper
NM_001186.4
p.F125Y
c.374T>A
1 paper
NM_001186.4
p.I118T
c.353T>C
1 paper
NM_001186.4
p.K129E
c.385A>G
1 paper
NM_001186.4
p.D136Y
c.406G>T
1 paper
NM_001186.4
p.K108R
c.323A>G
1 paper
NM_001186.4
p.R142fs
c.424_425fs
1 paper
NM_001186.4
p.K100R
c.299A>G
1 paper
NM_001186.4
p.K100delFs
c.299_300delAA
1 paper
NM_001186.4
p.K95N
c.285A>T
1 paper
NM_001186.4
p.K95R
c.284A>G
1 paper
NM_001186.4
p.L165L
c.493C>T
1 paper
NM_001186.4
p.D168A
c.503A>C
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