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.S1188R

c.3564C>A

Surrounding Variants

1 paper

NM_014639.4

p.S1188R

c.3564C>G

4 papers

NM_014639.4

p.S1188Splc

c.3564-2A>G

1 paper

NM_014639.4

p.S1188R

c.3562A>C

1 paper

NM_014639.4

p.L1195V

c.3583C>G

1 paper

NM_014639.4

p.L1195del1

c.3583_3584delAAG

5 papers

NM_014639.4

p.R1201*

c.3601C>T

1 paper

NM_014639.4

p.R1201R

c.3603A>G

2 papers

NM_014639.4

p.Q1205*

c.3613C>T

1 paper

NM_014639.4

p.Y1206H

c.3616T>C

4 papers

NM_014639.4

p.R1209*

c.3625C>T

1 paper

NM_014639.4

p.S1175N

c.3524G>A

1 paper

NM_014639.4

p.R1174P

c.3521G>C