Varaico: Literature-Extracted Genetic Variants

HELLS

86 papers

RefSeq Summary

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is ...

Pfam Domains

SNF2-rel_domaa 88–438UCSCSNF2-related domain

Helicase_Caa 461–574UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

helicase, lymphoid specific

HGNC Alias Symbols

PASG; SMARCA6; LSH; Nbla10143; SALNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018063.5

p.A7S

c.19G>T

Surrounding Variants

1 paper

NM_018063.5

p.G8G

c.24C>G

1 paper

NM_018063.5

p.M1T

c.2T>C

1 paper

NM_018063.5

p.G11Splc

c.32-8C>G

1 paper

NM_018063.5

p.A29V

c.86C>T

1 paper

NM_018063.5

p.M30K

c.89T>A

1 paper

NM_018063.5

p.G41V

c.122G>T

1 paper

NM_018063.5

p.E45*

c.133G>T

1 paper

NM_018063.5

p.K51_A52Splc

c.153+10G>T

1 paper

NM_018063.5

p.K51_A52Splc

c.154-1G>C

1 paper

NM_018063.5

p.R53C

c.157C>T

1 paper

NM_018063.5

p.S55T

c.163T>A

1 paper

NM_018063.5

p.S60A

c.178T>G