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.A209G

c.626C>G

Surrounding Variants

1 paper

NM_014877.4

p.Q205*

c.613C>T

1 paper

NM_014877.4

p.R194M

c.581G>T

1 paper

NM_014877.4

p.M236V

c.706A>G

1 paper

NM_014877.4

p.E258Q

c.772G>C

1 paper

NM_014877.4

p.R295C

c.883C>T

1 paper

NM_014877.4

p.L298F

c.894G>T

1 paper

NM_014877.4

p.L298F

c.894G>C

1 paper

NM_014877.4

p.T319P

c.955A>C

1 paper

NM_014877.4

p.Q320*

c.958C>T

1 paper

NM_014877.4

p.G334V

c.1001G>T

1 paper

NM_014877.4

p.G334E

c.1001G>A

1 paper

NM_014877.4

p.A338V

c.1013C>T