Varaico: Literature-Extracted Genetic Variants

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

9 papers

NM_014639.4

p.W936*

c.2807G>A

Surrounding Variants

16 papers

NM_014639.4

p.W936*

c.2808G>A

1 paper

NM_014639.4

p.A930insFs

c.2789dupC

1 paper

NM_014639.4

p.A930G

c.2789C>G

3 papers

NM_014639.4

p.H926_T927Splc

c.2779-2A>G

1 paper

NM_014639.4

p.T949I

c.2846C>T

1 paper

NM_014639.4

p.N960D

c.2878A>G

1 paper

NM_014639.4

p.E922*

c.2764G>T

1 paper

NM_014639.4

p.D912V

c.2735A>T

1 paper

NM_014639.4

p.C897delFs

c.2689delA

1 paper

NM_014639.4

p.C897fs

c.2689_2690fs

3 papers

NM_014639.4

p.Q888delFs

c.2662_2663delTG

1 paper

NM_014639.4

p.Q888*

c.2662C>T