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

1 paper

NM_006929.5

p.V242A

c.725T>C

Surrounding Variants

1 paper

NM_006929.5

p.V242fs

c.724_725fs

1 paper

NM_006929.5

p.D240N

c.718G>A

1 paper

NM_006929.5

p.P246T

c.736C>A

1 paper

NM_006929.5

p.R238_C247del10

c.712_740del30

1 paper

NM_006929.5

p.G236_P237Fs

c.708_709delinsTFs

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.P234L

c.701C>T

1 paper

NM_006929.5

p.P250P

c.750C>T

1 paper

NM_006929.5

p.E258K

c.772G>A

1 paper

NM_006929.5

p.D226V

c.677A>T

1 paper

NM_006929.5

p.G223insFs

c.669dupT