Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.L1131delFs

SKIC3

216 papers

RefSeq Summary

This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and ...

Pfam Domains

TPR_19aa 16–83UCSCTetratricopeptide repeat
TPR_16aa 390–454UCSCTetratricopeptide repeat
TPR_16aa 568–632UCSCTetratricopeptide repeat
TPR_8aa 861–894UCSCTetratricopeptide repeat
TPR_8aa 1400–1433UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

SKI3 subunit of superkiller complex

HGNC Previous Symbols

KIAA0372; TTC37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014639.4
p.L1131delFs
c.3391delG
Surrounding Variants
1 paper
NM_014639.4
p.L1131fs
c.3391_3392fs
1 paper
NM_014639.4
p.A1130V
c.3389C>T
1 paper
NM_014639.4
p.D1137Y
c.3409G>T
1 paper
NM_014639.4
p.T1122fs
c.3364_3365fs
3 papers
NM_014639.4
p.T1122delFs
c.3364delT
1 paper
NM_014639.4
p.T1122fs
c.3364_3365fs
12 papers
NM_014639.4
p.K1142insFs
c.3426dupA
6 papers
NM_014639.4
p.A1143fs
c.3427_3428fs
2 papers
NM_014639.4
p.A1143fs
c.3427_3428fs
1 paper
NM_014639.4
p.C1114Splc
c.3342-9T>G
4 papers
NM_014639.4
p.K1155fs
c.3463_3464fs
1 paper
NM_014639.4
p.K1155R
c.3464A>G
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