Varaico: Literature-Extracted Genetic Variants

HELZ

86 papers

RefSeq Summary

HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecu...

Pfam Domains

zf-CCCHaa 179–205UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

AAA_11aa 641–766UCSCAAA domain

AAA_11aa 745–833UCSCAAA domain

AAA_12aa 840–1052UCSCAAA domain

Gene Aliases

HGNC Name

helicase with zinc finger

HGNC Alias Symbols

KIAA0054; HUMORF5; DHRC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014877.4

p.G91R

c.271G>A

Surrounding Variants

1 paper

NM_014877.4

p.G91R

c.271G>C

1 paper

NM_014877.4

p.E92K

c.274G>A

1 paper

NM_014877.4

p.G85E

c.254G>A

1 paper

NM_014877.4

p.M102R

c.305T>G

1 paper

NM_014877.4

p.A116T

c.346G>A

1 paper

NM_014877.4

p.G126E

c.377G>A

1 paper

NM_014877.4

p.L150P

c.449T>C

1 paper

NM_014877.4

p.P172T

c.514C>A

1 paper

NM_014877.4

p.R173G

c.517A>G

1 paper

NM_014877.4

p.G174*

c.520G>T

1 paper

NM_014877.4

p.S178N

c.533G>A

1 paper

NM_014877.4

p.T182A

c.544A>G