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

1–12 of 314 variants

16 papers

NM_014639.4

p.W936*

c.2808G>A

12 papers

NM_014639.4

p.K1142insFs

c.3426dupA

9 papers

NM_014639.4

p.W936*

c.2807G>A

8 papers

NM_014639.4

p.G673D

c.2018G>A

8 papers

NM_014639.4

p.Y1169*

c.3507T>G

7 papers

NM_014639.4

p.K637E

c.1909A>G

7 papers

NM_014639.4

p.Y1169*

c.3507T>A

7 papers

NM_014639.4

p.P1270A

c.3808C>G

7 papers

NM_014639.4

p.D1283N

c.3847G>A

7 papers

NM_014639.4

p.L1485R

c.4454T>G

7 papers

NM_014639.4

p.R1503C

c.4507C>T

6 papers

NM_014639.4

p.R710*

c.2128C>T