Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.S245R

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.S245R
c.733A>C
Surrounding Variants
1 paper
NM_001186.4
p.S245R
c.735T>A
1 paper
NM_001186.4
p.S245R
c.735T>G
1 paper
NM_001186.4
p.E243D
c.729A>C
1 paper
NM_001186.4
p.E243D
c.729A>T
1 paper
NM_001186.4
p.E243G
c.728A>G
1 paper
NM_001186.4
p.T241A
c.721A>G
1 paper
NM_001186.4
p.H250delFs
c.748delC
1 paper
NM_001186.4
p.H250fs
c.748_749fs
1 paper
NM_001186.4
p.T236T
c.708T>C
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.Q231H
c.693A>T
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