Varaico: Literature-Extracted Genetic Variants

ASCC3

203 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activatin...

Pfam Domains

ASCC3_Naa 4–137UCSCASCC3-like, N-terminal domain

DEADaa 478–657UCSCDEAD/DEAH box helicase

Helicase_Caa 699–857UCSCHelicase conserved C-terminal domain

WHD_SNRNP200aa 887–963UCSCWinged Helix-turn-helix domain

Sec63aa 978–1286UCSCSec63 Brl domain

DEADaa 1328–1499UCSCDEAD/DEAH box helicase

Gene Aliases

HGNC Name

activating signal cointegrator 1 complex subunit 3

HGNC Previous Symbol

HELIC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006828.4

p.D246V

c.737A>T

Surrounding Variants

1 paper

NM_006828.4

p.L247V

c.739C>G

1 paper

NM_006828.4

p.E245K

c.733G>A

1 paper

NM_006828.4

p.E240fs

c.718_719fs

1 paper

NM_006828.4

p.E240delFs

c.718delC

1 paper

NM_006828.4

p.S257del1

c.769_770delAGA

1 paper

NM_006828.4

p.G261V

c.782G>T

1 paper

NM_006828.4

p.E267_L268Splc

c.801+1G>T

1 paper

NM_006828.4

p.S221C

c.662C>G

1 paper

NM_006828.4

p.S221Y

c.662C>A

1 paper

NM_006828.4

p.N219insFs

c.656_657ins8

1 paper

NM_006828.4

p.N219fs

c.655_656fs

1 paper

NM_006828.4

p.N219H

c.655A>C