Varaico: Literature-Extracted Genetic Variants

Gene:SKOR2
Variant:p.L244R

SKOR2

55 papers

Pfam Domains

Ski_Sno_DHDaa 23–132UCSCSKI/SNO/DAC Dachshund homology domain
c-SKI_SMAD_bindaa 144–235UCSCc-SKI Smad4 binding domain

Gene Aliases

HGNC Name

SKI family transcriptional corepressor 2

HGNC Alias Symbols

CORL2; FUSSEL18; Fussel-18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278063.4
p.L244R
c.731T>G
Surrounding Variants
1 paper
NM_001278063.4
p.R240C
c.718C>T
1 paper
NM_001278063.4
p.A249T
c.745G>A
1 paper
NM_001278063.4
p.G237S
c.709G>A
1 paper
NM_001278063.4
p.K232insFs
c.695dupA
1 paper
NM_001278063.4
p.V231I
c.691G>A
1 paper
NM_001278063.4
p.A227A
c.681C>T
1 paper
NM_001278063.4
p.A227P
c.679G>C
1 paper
NM_001278063.4
p.F226F
c.678C>T
1 paper
NM_001278063.4
p.A269T
c.805G>A
1 paper
NM_001278063.4
p.G275D
c.824G>A
1 paper
NM_001278063.4
p.G275fs
c.823_824fs
1 paper
NM_001278063.4
p.G275delFs
c.824delC
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