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

1–12 of 231 variants

10 papers

NM_006828.4

p.S1995C

c.5984C>G

8 papers

NM_006828.4

p.L146F

c.436C>T

5 papers

NM_006828.4

p.K532R

c.1595A>G

4 papers

NM_006828.4

p.K505R

c.1514A>G

4 papers

NM_006828.4

p.S1564P

c.4690T>C

4 papers

NM_006828.4

p.Y2176C

c.6527A>G

3 papers

NM_006828.4

p.G1652D

c.4955G>A

2 papers

NM_006828.4

p.M1I

c.3G>A

2 papers

NM_006828.4

p.G108D

c.323G>A

2 papers

NM_006828.4

p.R136Q

c.407G>A

2 papers

NM_006828.4

p.F163insFs

c.489dupT

2 papers

NM_006828.4

p.G164fs

c.490_491fs