Varaico: Literature-Extracted Genetic Variants

Gene:SKIDA1
Variant:p.D612E

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.D612E
c.1836T>G
Surrounding Variants
1 paper
NM_207371.4
p.D612E
c.1836T>A
1 paper
NM_207371.4
p.T604A
c.1810A>G
1 paper
NM_207371.4
p.K634T
c.1901A>C
1 paper
NM_207371.4
p.A588V
c.1763C>T
1 paper
NM_207371.4
p.L574Q
c.1721T>A
1 paper
NM_207371.4
p.I571N
c.1712T>A
1 paper
NM_207371.4
p.A563T
c.1687G>A
1 paper
NM_207371.4
p.N562S
c.1685A>G
1 paper
NM_207371.4
p.S561F
c.1682C>T
1 paper
NM_207371.4
p.D676Y
c.2026G>T
1 paper
NM_207371.4
p.R549M
c.1646G>T
1 paper
NM_207371.4
p.L682L
c.2044C>T
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