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.H853Y

c.2557C>T

Surrounding Variants

1 paper

NM_006929.5

p.H852Y

c.2554C>T

3 papers

NM_006929.5

p.V858delFs

c.2572delG

1 paper

NM_006929.5

p.S840*

c.2519C>A

1 paper

NM_006929.5

p.S840*

c.2519C>G

2 papers

NM_006929.5

p.V833E

c.2498T>A

2 papers

NM_006929.5

p.V833fs

c.2497_2498fs

4 papers

NM_006929.5

p.V833delFs

c.2498_2499delTG

1 paper

NM_006929.5

p.R827*

c.2479C>T

1 paper

NM_006929.5

p.Q826_R827Splc

c.2479-13C>T

1 paper

NM_006929.5

p.E816*

c.2446G>T

7 papers

NM_006929.5

p.W814*

c.2442G>A

3 papers

NM_006929.5

p.W814C

c.2442G>C