Varaico: Literature-Extracted Genetic Variants

Gene:SKOR2
Variant:p.K424fs

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.K424fs
c.1270_1271fs
Surrounding Variants
1 paper
NM_001278063.4
p.K424_E425delFs
c.1271_1274del4
1 paper
NM_001278063.4
p.P406Q
c.1217C>A
1 paper
NM_001278063.4
p.R459H
c.1376G>A
1 paper
NM_001278063.4
p.P465L
c.1394C>T
1 paper
NM_001278063.4
p.G367A
c.1100G>C
1 paper
NM_001278063.4
p.A366G
c.1097C>G
1 paper
NM_001278063.4
p.V362_A364ins1
c.1085_1090dup6
1 paper
NM_001278063.4
p.S342T
c.1024T>A
1 paper
NM_001278063.4
p.D316del1
c.946_948delGTC
1 paper
NM_001278063.4
p.A548T
c.1642G>A
1 paper
NM_001278063.4
p.P294del1
c.880_881delGGG
1 paper
NM_001278063.4
p.P291del1
c.871_872delTGG
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