Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.V524I

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.V524I
c.1570G>A
Surrounding Variants
2 papers
NM_001186.4
p.R532W
c.1594C>T
2 papers
NM_001186.4
p.R538Q
c.1613G>A
1 paper
NM_001186.4
p.H548L
c.1643A>T
1 paper
NM_001186.4
p.T551T
c.1653T>A
1 paper
NM_001186.4
p.D556_C557ins5
c.1666_1670ins15
2 papers
NM_001186.4
p.C557S
c.1669T>A
2 papers
NM_001186.4
p.C557S
c.1670G>C
1 paper
NM_001186.4
p.D560D
c.1680T>C
1 paper
NM_001186.4
p.R562R
c.1686A>T
5 papers
NM_001186.4
p.C574S
c.1720T>A
2 papers
NM_001186.4
p.C574S
c.1721G>C
1 paper
NM_001186.4
p.C581S
c.1741T>A
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