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.H390delFs

c.1168delC

Surrounding Variants

1 paper

NM_006929.5

p.L389insFs

c.1167dupG

1 paper

NM_006929.5

p.E392del1

c.1174_1176delGAG

4 papers

NM_006929.5

p.L396_M398delFs

c.1187_1193del7

1 paper

NM_006929.5

p.L396_I397delins

c.1187_1189delinsATT

1 paper

NM_006929.5

p.I397V

c.1189A>G

1 paper

NM_006929.5

p.V380M

c.1138G>A

1 paper

NM_006929.5

p.V380L

c.1138G>T

1 paper

NM_006929.5

p.T400T

c.1200A>G

3 papers

NM_006929.5

p.E401K

c.1201G>A

1 paper

NM_006929.5

p.E401Q

c.1201G>C

1 paper

NM_006929.5

p.L403F

c.1207C>T

2 papers

NM_006929.5

p.R404H

c.1211G>A