Varaico: Literature-Extracted Genetic Variants

Gene:DR1
Variant:p.K128_A129Splc

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.K128_A129Splc
c.384+1G>A
Surrounding Variants
2 papers
NM_001938.3
p.R107G
c.319C>G
1 paper
NM_001938.3
p.K103N
c.309G>C
1 paper
NM_001938.3
p.K103N
c.309G>T
2 papers
NM_001938.3
p.R102_K103insFs
c.306_307insT
1 paper
NM_001938.3
p.Q92*
c.274C>T
1 paper
NM_001938.3
p.E89K
c.265G>A
1 paper
NM_001938.3
p.G79fs
c.235_236fs
1 paper
NM_001938.3
p.A134T
c.400G>A
1 paper
NM_001938.3
p.E135K
c.403G>A
2 papers
NM_001938.3
p.M144I
c.432G>A
2 papers
NM_001938.3
p.M144I
c.432G>C
2 papers
NM_001938.3
p.M144I
c.432G>T
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