Varaico: Literature-Extracted Genetic Variants

Gene:BACH1
Variant:p.A678G

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
4 papers
NM_001186.4
p.A678G
c.2033C>G
Surrounding Variants
1 paper
NM_001186.4
p.R675W
c.2023C>T
1 paper
NM_001186.4
p.P682L
c.2045C>T
1 paper
NM_001186.4
p.A693T
c.2077G>A
1 paper
NM_001186.4
p.R694insFs
c.2080_2081insA
1 paper
NM_001186.4
p.R694G
c.2080C>G
1 paper
NM_001186.4
p.K657R
c.1970A>G
1 paper
NM_001186.4
p.D656V
c.1967A>T
1 paper
NM_001186.4
p.K655R
c.1964A>G
1 paper
NM_001186.4
p.E654delFs
c.1961delA
1 paper
NM_001186.4
p.T703insFs
c.2108_2109insCC
1 paper
NM_001186.4
p.T703T
c.2109A>G
1 paper
NM_001186.4
p.I652N
c.1955T>A
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