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

1–12 of 72 variants

6 papers

NM_018063.5

p.L801del1

c.2401_2402delTTA

4 papers

NM_018063.5

p.K254R

c.761A>G

4 papers

NM_018063.5

p.L800_L801del1

c.2400_2402delGTT

2 papers

NM_018063.5

p.R64W

c.190C>T

2 papers

NM_018063.5

p.V124Splc

c.370+2T>A

2 papers

NM_018063.5

p.M125_K127insFs

c.374_381dup8

2 papers

NM_018063.5

p.T305A

c.913A>G

2 papers

NM_018063.5

p.E542K

c.1624G>A

2 papers

NM_018063.5

p.Q699R

c.2096A>G

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.M1T

c.2T>C