Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.S314P

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.S314P
c.940T>C
Surrounding Variants
1 paper
NM_001186.4
p.T307S
c.920C>G
1 paper
NM_001186.4
p.T307S
c.919A>T
1 paper
NM_001186.4
p.H327R
c.980A>G
1 paper
NM_001186.4
p.C299_P300del2
c.895_899del6
2 papers
NM_001186.4
p.Q331R
c.992A>G
1 paper
NM_001186.4
p.T291M
c.872C>T
1 paper
NM_001186.4
p.A285T
c.853G>A
1 paper
NM_001186.4
p.V345M
c.1033G>A
2 papers
NM_001186.4
p.E281K
c.841G>A
1 paper
NM_001186.4
p.T347_E348delins
c.1041_1044delinsT
1 paper
NM_001186.4
p.M276L
c.826A>C
1 paper
NM_001186.4
p.M276L
c.826A>T
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