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

5 papers

NM_014639.4

p.V737A

c.2210T>C

Surrounding Variants

1 paper

NM_014639.4

p.Y728fs

c.2182_2183fs

1 paper

NM_014639.4

p.Y728C

c.2183A>G

3 papers

NM_014639.4

p.L727_Y728delFs

c.2181_2182delAC

2 papers

NM_014639.4

p.C724R

c.2170T>C

5 papers

NM_014639.4

p.Q751*

c.2251C>T

1 paper

NM_014639.4

p.G721R

c.2161G>C

1 paper

NM_014639.4

p.G721R

c.2161G>A

5 papers

NM_014639.4

p.L761P

c.2282T>C

1 paper

NM_014639.4

p.G762R

c.2284G>C

1 paper

NM_014639.4

p.G762R

c.2284G>A

6 papers

NM_014639.4

p.R710*

c.2128C>T

1 paper

NM_014639.4

p.H709Y

c.2125C>T