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

2 papers

NM_006828.4

p.F163insFs

c.489dupT

Surrounding Variants

1 paper

NM_006828.4

p.F163fs

c.487_488fs

2 papers

NM_006828.4

p.G164fs

c.490_491fs

1 paper

NM_006828.4

p.F163S

c.488T>C

1 paper

NM_006828.4

p.D159N

c.475G>A

1 paper

NM_006828.4

p.M152_E154del3

c.454_461del9

1 paper

NM_006828.4

p.L176F

c.528G>T

8 papers

NM_006828.4

p.L146F

c.436C>T

1 paper

NM_006828.4

p.Q143R

c.428A>G

2 papers

NM_006828.4

p.R136Q

c.407G>A

1 paper

NM_006828.4

p.R136*

c.406C>T

1 paper

NM_006828.4

p.E206G

c.617A>G

1 paper

NM_006828.4

p.F119S

c.356T>C