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

11 papers

NM_006929.5

p.V341G

c.1022T>G

Surrounding Variants

1 paper

NM_006929.5

p.T339P

c.1015A>C

1 paper

NM_006929.5

p.K338R

c.1013A>G

1 paper

NM_006929.5

p.A347A

c.1041C>T

4 papers

NM_006929.5

p.A332P

c.994G>C

1 paper

NM_006929.5

p.T354I

c.1061C>T

1 paper

NM_006929.5

p.S327A

c.979T>G

5 papers

NM_006929.5

p.R324W

c.970C>T

1 paper

NM_006929.5

p.L322L

c.966G>A

1 paper

NM_006929.5

p.L320L

c.958C>T

1 paper

NM_006929.5

p.K316R

c.947A>G

1 paper

NM_006929.5

p.Q315R

c.944A>G

3 papers

NM_006929.5

p.Q306_W307Splc

c.919-1G>A