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.N750Splc

c.2248+15T>C

Surrounding Variants

1 paper

NM_018063.5

p.K741E

c.2221A>G

1 paper

NM_018063.5

p.Q730P

c.2189A>C

1 paper

NM_018063.5

p.D701N

c.2101G>A

2 papers

NM_018063.5

p.Q699R

c.2096A>G

1 paper

NM_018063.5

p.G677S

c.2029G>A

1 paper

NM_018063.5

p.M658_H659del2

c.1972_1976del6

2 papers

NM_018063.5

p.L761_S762delFs

c.2283_2286del4

2 papers

NM_018063.5

p.S762fs

c.2284_2285fs

1 paper

NM_018063.5

p.L771_L775del5

c.2311_2324del15

4 papers

NM_018063.5

p.L800_L801del1

c.2400_2402delGTT

6 papers

NM_018063.5

p.L801del1

c.2401_2402delTTA

1 paper

NM_018063.5

p.R614delFs

c.1840delA