Varaico: Literature-Extracted Genetic Variants

Gene:SKOR1

SKOR1

29 papers

Pfam Domains

Ski_Sno_DHDaa 59–168UCSCSKI/SNO/DAC Dachshund homology domain
c-SKI_SMAD_bindaa 180–271UCSCc-SKI Smad4 binding domain

Gene Aliases

HGNC Name

SKI family transcriptional corepressor 1

HGNC Previous Symbol

LBXCOR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
2 papers
NM_001365915.1
p.S751_G752del1
c.2252_2254delGCG
1 paper
NM_001365915.1
p.V16D
c.47T>A
1 paper
NM_001365915.1
p.S70_A71del1
c.210_212delCGC
1 paper
NM_001365915.1
p.I103fs
c.307_308fs
1 paper
NM_001365915.1
p.P172T
c.514C>A
1 paper
NM_001365915.1
p.Y200N
c.598T>A
1 paper
NM_001365915.1
p.K206R
c.617A>G
1 paper
NM_001365915.1
p.C210_Y212del3
c.628_635del9
1 paper
NM_001365915.1
p.C210R
c.628T>C
1 paper
NM_001365915.1
p.L251delFs
c.751_752delCT
1 paper
NM_001365915.1
p.A256A
c.768C>A
1 paper
NM_001365915.1
p.G307S
c.919G>A
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