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.P1270A

c.3808C>G

Surrounding Variants

7 papers

NM_014639.4

p.D1283N

c.3847G>A

5 papers

NM_014639.4

p.R1296S

c.3888G>T

5 papers

NM_014639.4

p.R1296S

c.3888G>C

1 paper

NM_014639.4

p.L1299F

c.3897A>T

1 paper

NM_014639.4

p.L1299F

c.3897A>C

1 paper

NM_014639.4

p.L1301F

c.3903G>T

1 paper

NM_014639.4

p.L1301F

c.3903G>C

1 paper

NM_014639.4

p.Y1300_L1301del2

c.3898_3902del6

1 paper

NM_014639.4

p.L1264F

c.3790C>T

1 paper

NM_014639.4

p.N1253Fs

c.3757_3758delinsGFs

1 paper

NM_014639.4

p.A1242insFs

c.3724_3725insA

2 papers

NM_014639.4

p.L1241*

c.3722T>A