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

2 papers

NM_014639.4

p.V833E

c.2498T>A

Surrounding Variants

3 papers

NM_014639.4

p.V833delFs

c.2498_2499delCA

1 paper

NM_014639.4

p.A830S

c.2488G>T

5 papers

NM_014639.4

p.G839Splc

c.2515+1G>C

1 paper

NM_014639.4

p.V818delFs

c.2453_2454delCA

1 paper

NM_014639.4

p.V818fs

c.2452_2453fs

1 paper

NM_014639.4

p.K816delFs

c.2448delT

1 paper

NM_014639.4

p.K815_K816del2

c.2443_2447del6

1 paper

NM_014639.4

p.L814L

c.2442G>T

5 papers

NM_014639.4

p.L814L

c.2442G>A

1 paper

NM_014639.4

p.C813fs

c.2437_2438fs

1 paper

NM_014639.4

p.H812_C813Splc

c.2437-1G>A

2 papers

NM_014639.4

p.Q858delFs

c.2572delG