Varaico: Literature-Extracted Genetic Variants

Gene:DR1
Variant:p.E69E

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
1 paper
NM_001938.3
p.E69E
c.207G>A
Surrounding Variants
1 paper
NM_001938.3
p.E69K
c.205G>A
1 paper
NM_001938.3
p.V71A
c.212T>C
1 paper
NM_001938.3
p.I72V
c.214A>G
1 paper
NM_001938.3
p.A74E
c.221C>A
1 paper
NM_001938.3
p.A74Splc
c.220+6T>A
1 paper
NM_001938.3
p.S61S
c.183G>A
1 paper
NM_001938.3
p.N59K
c.177C>A
1 paper
NM_001938.3
p.I50K
c.149T>A
1 paper
NM_001938.3
p.H48Y
c.142C>T
1 paper
NM_001938.3
p.I47N
c.140T>A
1 paper
NM_001938.3
p.F46L
c.138C>A
1 paper
NM_001938.3
p.F46L
c.138C>G
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