Varaico: Literature-Extracted Genetic Variants

Gene:ZSWIM8
Variant:p.K1006_I1007Splc

ZSWIM8

160 papers

Pfam Domains

TPR_ZSWIM8aa 287–484UCSCZSWIM8, TPR repeats
ZSWIM4-8_Caa 1656–1824UCSCZSWIM4-8, C-terminal

Gene Aliases

HGNC Name

zinc finger SWIM-type containing 8

HGNC Previous Symbol

KIAA0913

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242488.2
p.K1006_I1007Splc
c.3019-3C>T
Surrounding Variants
1 paper
NM_001367799.1
p.D1018G
c.3053A>G
1 paper
NM_001367799.1
p.R1019delFs
c.3055delC
1 paper
NM_001367799.1
p.R1019fs
c.3055_3056fs
1 paper
NM_001367799.1
p.R1019*
c.3055C>T
1 paper
NM_001367799.1
p.R1044W
c.3130A>T
1 paper
NM_001367799.1
p.P1081S
c.3241C>T
1 paper
NM_001242487.2
p.K1135del1
c.3403_3405delAAG
2 papers
NM_001367799.1
p.G1145G
c.3435C>T
1 paper
NM_001367799.1
p.R1166Q
c.3497G>A
1 paper
NM_001367799.1
p.W1178*
c.3533G>A
1 paper
NM_001367799.1
p.S1190S
c.3570T>G
1 paper
NM_001367799.1
p.R1213W
c.3637C>T
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