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

5 papers

NM_006828.4

p.K532R

c.1595A>G

Surrounding Variants

1 paper

NM_006828.4

p.R518C

c.1552C>T

1 paper

NM_006828.4

p.H515R

c.1544A>G

1 paper

NM_006828.4

p.A509V

c.1526C>T

1 paper

NM_006828.4

p.K505N

c.1515A>T

1 paper

NM_006828.4

p.K505N

c.1515A>C

4 papers

NM_006828.4

p.K505R

c.1514A>G

2 papers

NM_006828.4

p.P500T

c.1498C>A

1 paper

NM_006828.4

p.E493E

c.1479G>A

1 paper

NM_006828.4

p.E486Q

c.1456G>C

1 paper

NM_006828.4

p.Q481*

c.1441C>T

1 paper

NM_006828.4

p.R479G

c.1435A>G

1 paper

NM_006828.4

p.L557L

c.1671A>T