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

1–12 of 312 variants

15 papers

NM_006929.5

p.R1063*

c.3187C>T

13 papers

NM_006929.5

p.G1187_G1194del0

c.3561_3581del21

12 papers

NM_006929.5

p.R374*

c.1120C>T

12 papers

NM_006929.5

p.G631S

c.1891G>A

11 papers

NM_006929.5

p.V341G

c.1022T>G

9 papers

NM_006929.5

p.W283*

c.848G>A

9 papers

NM_006929.5

p.W283*

c.849G>A

8 papers

NM_006929.5

p.R888fs

c.2662_2663fs

7 papers

NM_006929.5

p.W814*

c.2441G>A

7 papers

NM_006929.5

p.W814*

c.2442G>A

7 papers

NM_006929.5

p.R888delFs

c.2662_2663delAG

6 papers

NM_006929.5

p.M214L

c.640A>C