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.E134K

c.400G>A

Surrounding Variants

1 paper

NM_018063.5

p.N137S

c.410A>G

1 paper

NM_018063.5

p.S139L

c.416C>T

1 paper

NM_018063.5

p.K128*

c.382A>T

2 papers

NM_018063.5

p.M125_K127insFs

c.374_381dup8

2 papers

NM_018063.5

p.V124Splc

c.370+2T>A

1 paper

NM_018063.5

p.P123L

c.368C>T

1 paper

NM_018063.5

p.E121G

c.362A>G

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.N154delFs

c.461delA

1 paper

NM_018063.5

p.E92A

c.275A>C

1 paper

NM_018063.5

p.S79A

c.235T>G