Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.M210T

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.M210T
c.629T>C
Surrounding Variants
1 paper
NM_001186.4
p.S204T
c.611G>C
1 paper
NM_001186.4
p.P197ins2
c.589_590ins6
4 papers
NM_001186.4
p.K226K
c.678A>G
2 papers
NM_001186.4
p.A193T
c.577G>A
1 paper
NM_001186.4
p.G191E
c.572G>A
1 paper
NM_001186.4
p.G191R
c.571G>A
1 paper
NM_001186.4
p.Q231*
c.691C>T
1 paper
NM_001186.4
p.Q231L
c.692A>T
1 paper
NM_001186.4
p.Q231H
c.693A>T
1 paper
NM_001186.4
p.K232_A233insFs
c.696_697insT
1 paper
NM_001186.4
p.A233delFs
c.697delG
1 paper
NM_001186.4
p.L186H
c.557T>A
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