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.L1485R

c.4454T>G

Surrounding Variants

1 paper

NM_014639.4

p.N1460S

c.4379A>G

1 paper

NM_014639.4

p.R1499Splc

c.4497-1G>A

1 paper

NM_014639.4

p.R1502W

c.4504C>T

7 papers

NM_014639.4

p.R1503C

c.4507C>T

1 paper

NM_014639.4

p.R1503L

c.4508G>T

5 papers

NM_014639.4

p.L1505S

c.4514T>C

1 paper

NM_014639.4

p.P1512S

c.4534C>T

1 paper

NM_014639.4

p.T1521S

c.4561A>T

1 paper

NM_014639.4

p.T1521S

c.4562C>G

6 papers

NM_014639.4

p.W1524*

c.4571G>A

5 papers

NM_014639.4

p.W1524*

c.4572G>A

1 paper

NM_014639.4

p.Y1525Y

c.4575C>T