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.I1549V

c.4645A>G

Surrounding Variants

4 papers

NM_006828.4

p.S1564P

c.4690T>C

1 paper

NM_006828.4

p.A1577A

c.4731C>T

1 paper

NM_006828.4

p.N1542K

c.4626C>G

1 paper

NM_006828.4

p.N1542K

c.4626C>A

2 papers

NM_006828.4

p.R1518H

c.4553G>A

1 paper

NM_006828.4

p.R1514Q

c.4541G>A

2 papers

NM_006828.4

p.R1472Q

c.4415G>A

1 paper

NM_006828.4

p.L1457L

c.4369C>T

2 papers

NM_006828.4

p.D1453A

c.4358A>C

1 paper

NM_006828.4

p.I1451L

c.4351A>C

1 paper

NM_006828.4

p.S1435I

c.4304G>T

2 papers

NM_006828.4

p.T1427M

c.4280C>T