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

1–12 of 157 variants

2 papers

NM_014877.4

p.M824V

c.2470A>G

2 papers

NM_014877.4

p.I1108V

c.3322A>G

2 papers

NM_014877.4

p.P1665L

c.4994C>T

1 paper

NM_014877.4

p.A13V

c.38C>T

1 paper

NM_014877.4

p.C29Y

c.86G>A

1 paper

NM_014877.4

p.D43E

c.129C>G

1 paper

NM_014877.4

p.D43E

c.129C>A

1 paper

NM_014877.4

p.P47A

c.139C>G

1 paper

NM_014877.4

p.R54H

c.161G>A

1 paper

NM_014877.4

p.G85E

c.254G>A

1 paper

NM_014877.4

p.G91R

c.271G>C

1 paper

NM_014877.4

p.G91R

c.271G>A