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.K539K

c.1617G>A

Surrounding Variants

1 paper

NM_006929.5

p.Q540L

c.1619A>T

1 paper

NM_006929.5

p.A538delFs

c.1612delG

6 papers

NM_006929.5

p.G545_G546insFs

c.1635_1636insA

3 papers

NM_006929.5

p.G546R

c.1636G>C

5 papers

NM_006929.5

p.G546fs

c.1636_1637fs

1 paper

NM_006929.5

p.A548S

c.1642G>T

2 papers

NM_006929.5

p.Q549_D550Splc

c.1647+1G>A

1 paper

NM_006929.5

p.Y519C

c.1556A>G

1 paper

NM_006929.5

p.Y518insFs

c.1553_1554dupAC

1 paper

NM_006929.5

p.G517delFs

c.1549delG

1 paper

NM_006929.5

p.H514Y

c.1540C>T

4 papers

NM_006929.5

p.R510*

c.1528C>T