Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.T454T

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.T454T
c.1362A>G
Surrounding Variants
1 paper
NM_001186.4
p.V459_N460insFs
c.1377_1378insA
1 paper
NM_001186.4
p.P446P
c.1338A>C
1 paper
NM_001186.4
p.I464V
c.1390A>G
1 paper
NM_001186.4
p.G439R
c.1315G>C
1 paper
NM_001186.4
p.G471insFs
c.1411_1412insT
1 paper
NM_001186.4
p.L438delFs
c.1314delA
1 paper
NM_001186.4
p.G471A
c.1412G>C
1 paper
NM_001186.4
p.C472R
c.1414T>C
1 paper
NM_001186.4
p.S485*
c.1454C>A
1 paper
NM_001186.4
p.S485*
c.1454C>G
1 paper
NM_001186.4
p.Q415*
c.1243C>T
1 paper
NM_001186.4
p.G501G
c.1503A>T
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