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.Q813R

c.2438A>G

Surrounding Variants

1 paper

NM_014877.4

p.L808V

c.2422C>G

1 paper

NM_014877.4

p.D822N

c.2464G>A

2 papers

NM_014877.4

p.M824V

c.2470A>G

1 paper

NM_014877.4

p.L792V

c.2374C>G

1 paper

NM_014877.4

p.D782H

c.2344G>C

1 paper

NM_014877.4

p.L826I

c.2476C>A

1 paper

NM_014877.4

p.R766Q

c.2297G>A

1 paper

NM_014877.4

p.H751Y

c.2251C>T

1 paper

NM_014877.4

p.A750V

c.2249C>T

1 paper

NM_014877.4

p.D846G

c.2537A>G

1 paper

NM_014877.4

p.R847Q

c.2540G>A

1 paper

NM_014877.4

p.Y849F

c.2546A>T