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.Q2025_A2026Splc

c.6075+2T>G

Surrounding Variants

10 papers

NM_006828.4

p.S1995C

c.5984C>G

1 paper

NM_006828.4

p.S1995A

c.5983T>G

1 paper

NM_006828.4

p.E1994K

c.5980G>A

1 paper

NM_006828.4

p.K1983R

c.5948A>G

1 paper

NM_006828.4

p.L1974L

c.5922T>C

1 paper

NM_006828.4

p.T1939I

c.5816C>T

1 paper

NM_006828.4

p.V1930M

c.5788G>A

1 paper

NM_006828.4

p.K2043*

c.6127A>T

1 paper

NM_006828.4

p.N2069K

c.6207C>G

1 paper

NM_006828.4

p.N2069K

c.6207C>A

1 paper

NM_006828.4

p.E2079D

c.6237G>T

1 paper

NM_006828.4

p.E2079D

c.6237G>C