Varaico: Literature-Extracted Genetic Variants

Gene:DR1
Variant:p.S4S

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.S4S
c.12G>C
Surrounding Variants
1 paper
NM_001938.3
p.S4S
c.12G>A
1 paper
NM_001938.3
p.G6R
c.16G>C
1 paper
NM_001938.3
p.G6D
c.17G>A
1 paper
NM_001938.3
p.S3delFs
c.8delC
1 paper
NM_001938.3
p.A2_S3insFs
c.6_7insA
1 paper
NM_001938.3
p.N7insFs
c.19_20insG
1 paper
NM_001938.3
p.D8A
c.23A>C
1 paper
NM_001938.3
p.L11V
c.31C>G
1 paper
NM_001938.3
p.T12A
c.34A>G
1 paper
NM_001938.3
p.A16T
c.46G>A
1 paper
NM_001938.3
p.A17T
c.49G>A
1 paper
NM_001938.3
p.A17A
c.51T>A
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