Varaico: Literature-Extracted Genetic Variants

Gene:DR1
Variant:p.M144I

DR1

128 papers

RefSeq Summary

This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this ph...

Pfam Domains

CBFD_NFYB_HMFaa 11–75UCSCHistone-like transcription factor (CBF/NF-Y) and archaeal histone

Gene Aliases

HGNC Name

down-regulator of transcription 1

HGNC Alias Symbols

NC2-BETA; NC2B; NCB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001938.3
p.M144I
c.432G>C
Surrounding Variants
2 papers
NM_001938.3
p.M144I
c.432G>A
2 papers
NM_001938.3
p.M144I
c.432G>T
1 paper
NM_001938.3
p.Q150H
c.450A>C
1 paper
NM_001938.3
p.Q150H
c.450A>T
1 paper
NM_001938.3
p.Q152H
c.456G>C
1 paper
NM_001938.3
p.Q152H
c.456G>T
1 paper
NM_001938.3
p.E135K
c.403G>A
1 paper
NM_001938.3
p.A134T
c.400G>A
1 paper
NM_001938.3
p.A156V
c.467C>T
1 paper
NM_001938.3
p.S159C
c.475A>T
1 paper
NM_001938.3
p.E171_D172ins1
c.513_514insGAT
4 papers
NM_001938.3
p.E171D
c.513A>C
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