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.R1202C

c.3604C>T

Surrounding Variants

1 paper

NM_006929.5

p.Q1201R

c.3602A>G

2 papers

NM_006929.5

p.Q1201*

c.3601C>T

1 paper

NM_006929.5

p.Q1201fs

c.3601_3602fs

3 papers

NM_006929.5

p.Q1201_L1203delFs

c.3602_3609del8

1 paper

NM_006929.5

p.L1195V

c.3583C>G

2 papers

NM_006929.5

p.L1195del1

c.3583_3584delCTG

1 paper

NM_006929.5

p.R1211insFs

c.3632dupG

1 paper

NM_006929.5

p.R1211fs

c.3631_3632fs

1 paper

NM_006929.5

p.E1193del1

c.3577_3578delGAG

13 papers

NM_006929.5

p.G1187_G1194del0

c.3561_3581del21

1 paper

NM_006929.5

p.M1180_P1181Splc

c.3541-2A>C

3 papers

NM_006929.5

p.M1180_P1181Splc

c.3541-2A>G