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

1 paper

NM_014639.4

p.L782delFs

c.2344delG

Surrounding Variants

1 paper

NM_014639.4

p.N785fs

c.2353_2354fs

1 paper

NM_014639.4

p.N785_Y786delFs

c.2354_2357del4

1 paper

NM_014639.4

p.H792Q

c.2376T>G

1 paper

NM_014639.4

p.H792Q

c.2376T>A

1 paper

NM_014639.4

p.R768H

c.2303G>A

1 paper

NM_014639.4

p.N801fs

c.2401_2402fs

1 paper

NM_014639.4

p.K804insFs

c.2411dupA

1 paper

NM_014639.4

p.E805fs

c.2413_2414fs

1 paper

NM_014639.4

p.G762R

c.2284G>C

1 paper

NM_014639.4

p.G762R

c.2284G>A

5 papers

NM_014639.4

p.L761P

c.2282T>C

5 papers

NM_014639.4

p.Q751*

c.2251C>T