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.P1018L

c.3053C>T

Surrounding Variants

2 papers

NM_006929.5

p.S1017_P1018insFs

c.3051_3052insA

1 paper

NM_006929.5

p.R1019insFs

c.3055dupC

1 paper

NM_006929.5

p.Q1010fs

c.3028_3029fs

1 paper

NM_006929.5

p.R1001W

c.3001C>T

1 paper

NM_006929.5

p.R1001delFs

c.3001delC

1 paper

NM_006929.5

p.E997_G1011Fs

c.2990_3031delinsCFs

1 paper

NM_006929.5

p.D983N

c.2947G>A

1 paper

NM_006929.5

p.L982L

c.2946C>T

1 paper

NM_006929.5

p.L982R

c.2945T>G

1 paper

NM_006929.5

p.G978R

c.2932G>A

1 paper

NM_006929.5

p.G978R

c.2932G>C

1 paper

NM_006929.5

p.Q966*

c.2896C>T