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

7 papers

NM_014639.4

p.Y1169*

c.3507T>A

Surrounding Variants

8 papers

NM_014639.4

p.Y1169*

c.3507T>G

1 paper

NM_014639.4

p.A1167V

c.3500C>T

1 paper

NM_014639.4

p.R1174P

c.3521G>C

1 paper

NM_014639.4

p.S1175N

c.3524G>A

4 papers

NM_014639.4

p.K1155delFs

c.3464_3465delTT

1 paper

NM_014639.4

p.K1155N

c.3465A>T

1 paper

NM_014639.4

p.K1155N

c.3465A>C

2 papers

NM_014639.4

p.K1155fs

c.3463_3464fs

1 paper

NM_014639.4

p.K1155R

c.3464A>G

4 papers

NM_014639.4

p.K1155fs

c.3463_3464fs

2 papers

NM_014639.4

p.A1143fs

c.3427_3428fs

12 papers

NM_014639.4

p.K1142insFs

c.3426dupA