Varaico: Literature-Extracted Genetic Variants

SKIC2

345 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

Ski2_Naa 74–203UCSCSki2 N-terminal region

DEADaa 312–463UCSCDEAD/DEAH box helicase

Helicase_Caa 586–708UCSCHelicase conserved C-terminal domain

MTR4-like_stalkaa 763–830UCSCExosome RNA helicase MTR4-like, stalk

MTR4_beta-barrelaa 831–1046UCSCMtr4-like, beta-barrel domain

DSHCTaa 1071–1240UCSCDSHCT (NUC185) domain

Gene Aliases

HGNC Name

SKI2 subunit of superkiller complex

HGNC Previous Symbols

SKIV2; SKIV2L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_006929.5

p.R888delFs

c.2662_2663delAG

Surrounding Variants

1 paper

NM_006929.5

p.D887E

c.2661C>A

1 paper

NM_006929.5

p.D887E

c.2661C>G

2 papers

NM_006929.5

p.R888del1

c.2662_2664delAGG

1 paper

NM_006929.5

p.R888fs

c.2662_2663fs

2 papers

NM_006929.5

p.R888G

c.2662A>G

8 papers

NM_006929.5

p.R888fs

c.2662_2663fs

3 papers

NM_006929.5

p.D887N

c.2659G>A

1 paper

NM_006929.5

p.T892A

c.2674A>G

1 paper

NM_006929.5

p.L881L

c.2643G>A

1 paper

NM_006929.5

p.S864L

c.2591C>T

1 paper

NM_006929.5

p.G911Splc

c.2732-1G>A

3 papers

NM_006929.5

p.V917M

c.2749G>A