Varaico: Literature-Extracted Genetic Variants

Gene:SKIDA1
Variant:p.H346del1

SKIDA1

57 papers

Pfam Domains

Ski_Sno_DHDaa 6–97UCSCSKI/SNO/DAC Dachshund homology domain
EPOPaa 475–906UCSCElongin BC and Polycomb repressive complex 2-associated protein

Gene Aliases

HGNC Name

SKI/DACH domain containing 1

HGNC Previous Symbol

C10orf140

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_207371.4
p.H346del1
c.1036_1037delGTG
Surrounding Variants
1 paper
NM_207371.4
p.H350ins2
c.1048_1049ins6
1 paper
NM_207371.4
p.H343_H344del1
c.1029_1031delTGG
1 paper
NM_207371.4
p.H343insFs
c.1029dupC
1 paper
NM_207371.4
p.H342fs
c.1024_1025fs
1 paper
NM_207371.4
p.H342delFs
c.1024delG
1 paper
NM_207371.4
p.P363fs
c.1087_1088fs
1 paper
NM_207371.4
p.P363delFs
c.1088delG
1 paper
NM_207371.4
p.A313del1
c.937_938delCGC
1 paper
NM_207371.4
p.A310_A311del1
c.930_932delGCC
1 paper
NM_207371.4
p.S396L
c.1187C>T
1 paper
NM_207371.4
p.K300K
c.900A>G
1 paper
NM_207371.4
p.V409L
c.1225G>C
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