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.K484delFs

c.1452delC

Surrounding Variants

2 papers

NM_014639.4

p.L483P

c.1448T>C

3 papers

NM_014639.4

p.L483L

c.1447C>T

4 papers

NM_014639.4

p.A478delFs

c.1434delA

3 papers

NM_014639.4

p.T476R

c.1427C>G

2 papers

NM_014639.4

p.D474Y

c.1420G>T

1 paper

NM_014639.4

p.R472G

c.1414A>G

2 papers

NM_014639.4

p.F466V

c.1396T>G

2 papers

NM_014639.4

p.Y458*

c.1374C>G

2 papers

NM_014639.4

p.Y458*

c.1374C>A

1 paper

NM_014639.4

p.D450N

c.1348G>A

1 paper

NM_014639.4

p.E448Q

c.1342G>C

3 papers

NM_014639.4

p.K484_A485Splc

c.1453-1G>C