Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.F173L

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.F173L
c.517T>C
Surrounding Variants
1 paper
NM_001186.4
p.D168A
c.503A>C
1 paper
NM_001186.4
p.L165L
c.493C>T
1 paper
NM_001186.4
p.L186insFs
c.556_557ins5
1 paper
NM_001186.4
p.L186F
c.556C>T
1 paper
NM_001186.4
p.L186fs
c.556_557fs
1 paper
NM_001186.4
p.L186H
c.557T>A
1 paper
NM_001186.4
p.G191R
c.571G>A
1 paper
NM_001186.4
p.G191E
c.572G>A
2 papers
NM_001186.4
p.A193T
c.577G>A
1 paper
NM_001186.4
p.P197ins2
c.589_590ins6
1 paper
NM_001186.4
p.R142fs
c.424_425fs
1 paper
NM_001186.4
p.S204T
c.611G>C
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