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

9 papers

NM_006929.5

p.W283*

c.849G>A

Surrounding Variants

9 papers

NM_006929.5

p.W283*

c.848G>A

1 paper

NM_006929.5

p.A284G

c.851C>G

1 paper

NM_006929.5

p.V287_S291del5

c.859_872del15

1 paper

NM_006929.5

p.T290T

c.870C>A

5 papers

NM_006929.5

p.P301S

c.901C>T

5 papers

NM_006929.5

p.Q302*

c.904C>T

1 paper

NM_006929.5

p.A265V

c.794C>T

1 paper

NM_006929.5

p.Q306*

c.916C>T

1 paper

NM_006929.5

p.E258K

c.772G>A

1 paper

NM_006929.5

p.P250P

c.750C>T

1 paper

NM_006929.5

p.P246T

c.736C>A

1 paper

NM_006929.5

p.V242A

c.725T>C