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.T1236N

c.3707C>A

Surrounding Variants

2 papers

NM_014639.4

p.L1241*

c.3722T>A

1 paper

NM_014639.4

p.A1242insFs

c.3724_3725insA

1 paper

NM_014639.4

p.N1253Fs

c.3757_3758delinsGFs

1 paper

NM_014639.4

p.L1264F

c.3790C>T

1 paper

NM_014639.4

p.L1224M

c.3670C>A

1 paper

NM_014639.4

p.V1216I

c.3646G>A

1 paper

NM_014639.4

p.G1213R

c.3637G>C

1 paper

NM_014639.4

p.G1213R

c.3637G>A

4 papers

NM_014639.4

p.R1209*

c.3625C>T

1 paper

NM_014639.4

p.Y1206H

c.3616T>C

2 papers

NM_014639.4

p.Q1205*

c.3613C>T

1 paper

NM_014639.4

p.R1201R

c.3603A>G