Varaico: Literature-Extracted Genetic Variants

Gene:SKIDA1
Variant:p.H701Q

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
1 paper
NM_207371.4
p.H701Q
c.2103C>A
Surrounding Variants
1 paper
NM_207371.4
p.H701Q
c.2103C>G
1 paper
NM_207371.4
p.H701D
c.2101C>G
1 paper
NM_207371.4
p.F703I
c.2107T>A
1 paper
NM_207371.4
p.E690_Y698del9
c.2068_2093del27
1 paper
NM_207371.4
p.Y698_E699insCGC
c.2092_2096ins9
1 paper
NM_207371.4
p.Y698H
c.2092T>C
1 paper
NM_207371.4
p.K706_L707ins9
c.2116_2120ins27
1 paper
NM_207371.4
p.K708K
c.2124G>A
1 paper
NM_207371.4
p.S692G
c.2074A>G
1 paper
NM_207371.4
p.N684delFs
c.2051delT
1 paper
NM_207371.4
p.S720R
c.2158A>C
1 paper
NM_207371.4
p.S720R
c.2160T>G
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