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

4 papers

NM_006828.4

p.Y2176C

c.6527A>G

Surrounding Variants

1 paper

NM_006828.4

p.V2179L

c.6535G>C

1 paper

NM_006828.4

p.L2169L

c.6507G>A

1 paper

NM_006828.4

p.G2168fs

c.6502_6503fs

1 paper

NM_006828.4

p.F2161L

c.6483C>G

1 paper

NM_006828.4

p.F2161L

c.6483C>A

1 paper

NM_006828.4

p.F2161Y

c.6482T>A

1 paper

NM_006828.4

p.F2161L

c.6481T>C

1 paper

NM_006828.4

p.V2141I

c.6421G>A

1 paper

NM_006828.4

p.R2125T

c.6374G>C

1 paper

NM_006828.4

p.D2123G

c.6368A>G

1 paper

NM_006828.4

p.E2099G

c.6296A>G

1 paper

NM_006828.4

p.P2098P

c.6294A>G