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.P209P

c.627A>T

Surrounding Variants

1 paper

NM_018063.5

p.F212I

c.634T>A

1 paper

NM_018063.5

p.K204*

c.610A>T

1 paper

NM_018063.5

p.D200_R203delFs

c.599_608del10

1 paper

NM_018063.5

p.G220delFs

c.658_659delGG

1 paper

NM_018063.5

p.F198delFs

c.592delT

1 paper

NM_018063.5

p.L187S

c.560T>C

1 paper

NM_018063.5

p.G244A

c.731G>C

1 paper

NM_018063.5

p.A247E

c.740C>A

1 paper

NM_018063.5

p.G251R

c.751G>A

1 paper

NM_018063.5

p.G251R

c.751G>C

4 papers

NM_018063.5

p.K254R

c.761A>G

1 paper

NM_018063.5

p.G272R

c.814G>A