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.R11C

c.31C>T

Surrounding Variants

1 paper

NM_006828.4

p.R11H

c.32G>A

1 paper

NM_006828.4

p.R5L

c.14G>T

1 paper

NM_006828.4

p.R5H

c.14G>A

1 paper

NM_006828.4

p.R5C

c.13C>T

1 paper

NM_006828.4

p.R5G

c.13C>G

1 paper

NM_006828.4

p.R5S

c.13C>A

1 paper

NM_006828.4

p.T17_K18delFs

c.51_52delTG

1 paper

NM_006828.4

p.Q19fs

c.55_56fs

1 paper

NM_006828.4

p.M1I

c.3G>T

1 paper

NM_006828.4

p.M1I

c.3G>C

2 papers

NM_006828.4

p.M1I

c.3G>A

1 paper

NM_006828.4

p.I31L

c.91A>C