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.A485delFs

c.1453delC

Surrounding Variants

3 papers

NM_014639.4

p.K484_A485Splc

c.1453-1G>C

1 paper

NM_014639.4

p.G493delFs

c.1477delC

2 papers

NM_014639.4

p.G500V

c.1499G>T

1 paper

NM_014639.4

p.V535A

c.1604T>C

1 paper

NM_014639.4

p.E542K

c.1624G>A

2 papers

NM_014639.4

p.E545fs

c.1633_1634fs

5 papers

NM_014639.4

p.E545_M546insFs

c.1635_1636insA

1 paper

NM_014639.4

p.I550F

c.1648A>T

1 paper

NM_014639.4

p.A563T

c.1687G>A

5 papers

NM_014639.4

p.R570*

c.1708C>T

1 paper

NM_014639.4

p.K576_A577insFs

c.1728_1729insTG

1 paper

NM_014639.4

p.A585D

c.1754C>A