Varaico: Literature-Extracted Genetic Variants

Gene:BMAL2
Variant:p.R496T

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.R496T
c.1487G>C
Surrounding Variants
2 papers
NM_020183.6
p.S501G
c.1501A>G
1 paper
NM_020183.6
p.H475R
c.1424A>G
1 paper
NM_020183.6
p.G474G
c.1422A>T
3 papers
NM_020183.6
p.L473S
c.1418T>C
1 paper
NM_020183.6
p.L462Q
c.1385T>A
1 paper
NM_020183.6
p.S453R
c.1359T>A
1 paper
NM_020183.6
p.S453R
c.1359T>G
1 paper
NM_020183.6
p.S453R
c.1357A>C
1 paper
NM_020183.6
p.E398K
c.1192G>A
3 papers
NM_020183.6
p.I372T
c.1115T>C
1 paper
NM_020183.6
p.N360S
c.1079A>G
1 paper
NM_020183.6
p.N340D
c.1018A>G
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