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

7 papers

NM_014639.4

p.K637E

c.1909A>G

Surrounding Variants

1 paper

NM_014639.4

p.Q643*

c.1927C>T

1 paper

NM_014639.4

p.T622P

c.1864A>C

1 paper

NM_014639.4

p.Y655C

c.1964A>G

1 paper

NM_014639.4

p.T616P

c.1846A>C

1 paper

NM_014639.4

p.E606G

c.1817A>G

1 paper

NM_014639.4

p.D594N

c.1780G>A

1 paper

NM_014639.4

p.D586Splc

c.1757+1G>A

1 paper

NM_014639.4

p.A585D

c.1754C>A

1 paper

NM_014639.4

p.K576_A577insFs

c.1728_1729insTG

5 papers

NM_014639.4

p.R570*

c.1708C>T

1 paper

NM_014639.4

p.A563T

c.1687G>A

1 paper

NM_014639.4

p.I550F

c.1648A>T