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

6 papers

NM_006929.5

p.M214L

c.640A>T

Surrounding Variants

6 papers

NM_006929.5

p.M214L

c.640A>C

1 paper

NM_006929.5

p.M214insFs

c.642dupG

1 paper

NM_006929.5

p.C213insFs

c.638_639insA

1 paper

NM_006929.5

p.C213delFs

c.638delG

1 paper

NM_006929.5

p.G223insFs

c.669dupT

1 paper

NM_006929.5

p.D226V

c.677A>T

1 paper

NM_006929.5

p.C201Y

c.602G>A

1 paper

NM_006929.5

p.C201F

c.602G>T

1 paper

NM_006929.5

p.P234L

c.701C>T

1 paper

NM_006929.5

p.G235R

c.703G>A

1 paper

NM_006929.5

p.G235R

c.703G>C

1 paper

NM_006929.5

p.G236_P237Fs

c.708_709delinsTFs