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.M658_H659del2

c.1972_1976del6

Surrounding Variants

1 paper

NM_018063.5

p.G677S

c.2029G>A

2 papers

NM_018063.5

p.Q699R

c.2096A>G

1 paper

NM_018063.5

p.R614delFs

c.1840delA

1 paper

NM_018063.5

p.D701N

c.2101G>A

1 paper

NM_018063.5

p.N597K

c.1791T>A

1 paper

NM_018063.5

p.N597K

c.1791T>G

1 paper

NM_018063.5

p.V595I

c.1783G>A

1 paper

NM_018063.5

p.Q730P

c.2189A>C

1 paper

NM_018063.5

p.K741E

c.2221A>G

1 paper

NM_018063.5

p.N750Splc

c.2248+15T>C

2 papers

NM_018063.5

p.E542K

c.1624G>A

1 paper

NM_018063.5

p.L502F

c.1506A>C