Varaico: Literature-Extracted Genetic Variants

Gene:BMAL2
Variant:p.R85T

BMAL2

51 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular o...

Pfam Domains

HLHaa 108–161UCSCHelix-loop-helix DNA-binding domain
PASaa 181–287UCSCPAS fold
PAS_11aa 368–477UCSCPAS domain

Gene Aliases

HGNC Name

basic helix-loop-helix ARNT like 2

HGNC Previous Symbol

ARNTL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020183.6
p.R85T
c.254G>C
Surrounding Variants
1 paper
NM_020183.6
p.R85K
c.254G>A
1 paper
NM_020183.6
p.Q61R
c.182A>G
1 paper
NM_020183.6
p.S60fs
c.178_179fs
1 paper
NM_020183.6
p.S60_Q61delFs
c.179_182del4
2 papers
NM_020183.6
p.G54R
c.160G>A
2 papers
NM_020183.6
p.G54R
c.160G>C
1 paper
NM_020183.6
p.R50*
c.148C>T
1 paper
NM_020183.6
p.Q19Q
c.57G>A
1 paper
NM_020183.6
p.L14L
c.42G>A
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