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

4 papers

NM_006929.5

p.K1035del1

c.3103_3104delAAG

Surrounding Variants

2 papers

NM_006929.5

p.Q1034del1

c.3100_3101delCAG

3 papers

NM_006929.5

p.E1038_Q1047delFs

c.3112_3140del29

1 paper

NM_006929.5

p.R1030G

c.3088C>G

1 paper

NM_006929.5

p.R1030*

c.3088C>T

3 papers

NM_006929.5

p.E1038fs

c.3112_3113fs

2 papers

NM_006929.5

p.E1038fs

c.3112_3113fs

1 paper

NM_006929.5

p.Y1024_L1025delFs

c.3071_3074del4

2 papers

NM_006929.5

p.R1058*

c.3172C>T

3 papers

NM_006929.5

p.L1062_Y1067insFs

c.3185_3201dup17

15 papers

NM_006929.5

p.R1063*

c.3187C>T

1 paper

NM_006929.5

p.R1063P

c.3188G>C

3 papers

NM_006929.5

p.A1071V

c.3212C>T