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.G517delFs

c.1549delG

Surrounding Variants

1 paper

NM_006929.5

p.H514Y

c.1540C>T

4 papers

NM_006929.5

p.R510*

c.1528C>T

1 paper

NM_006929.5

p.K498Q

c.1492A>C

1 paper

NM_006929.5

p.N495K

c.1485C>A

1 paper

NM_006929.5

p.N495K

c.1485C>G

1 paper

NM_006929.5

p.G494A

c.1481G>C

1 paper

NM_006929.5

p.T493delFs

c.1477delA

1 paper

NM_006929.5

p.Y518insFs

c.1553_1554dupAC

1 paper

NM_006929.5

p.Y519C

c.1556A>G

1 paper

NM_006929.5

p.E488Q

c.1462G>C

3 papers

NM_006929.5

p.V485fs

c.1453_1454fs

1 paper

NM_006929.5

p.P484P

c.1452C>T