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.L68_Q69del2

c.202_206del6

Surrounding Variants

2 papers

NM_018063.5

p.R64W

c.190C>T

1 paper

NM_018063.5

p.E62A

c.185A>C

1 paper

NM_018063.5

p.S60A

c.178T>G

1 paper

NM_018063.5

p.S79A

c.235T>G

1 paper

NM_018063.5

p.S55T

c.163T>A

1 paper

NM_018063.5

p.R53C

c.157C>T

1 paper

NM_018063.5

p.K51_A52Splc

c.154-1G>C

1 paper

NM_018063.5

p.E92A

c.275A>C

1 paper

NM_018063.5

p.E101D

c.303G>C

1 paper

NM_018063.5

p.E101D

c.303G>T

1 paper

NM_018063.5

p.K51_A52Splc

c.153+10G>T

1 paper

NM_018063.5

p.E45*

c.133G>T