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.H1668H

c.5004C>T

Surrounding Variants

2 papers

NM_014877.4

p.P1665L

c.4994C>T

1 paper

NM_014877.4

p.L1693P

c.5078T>C

1 paper

NM_014877.4

p.Q1716E

c.5146C>G

1 paper

NM_014877.4

p.V1610I

c.4828G>A

1 paper

NM_014877.4

p.S1740F

c.5219C>T

1 paper

NM_014877.4

p.A1595fs

c.4783_4784fs

1 paper

NM_014877.4

p.L1594delFs

c.4782delT

1 paper

NM_014877.4

p.L1742L

c.5226C>A

1 paper

NM_014877.4

p.L1594I

c.4780C>A

1 paper

NM_014877.4

p.E1747_Y1748Splc

c.5241+10T>G

1 paper

NM_014877.4

p.E1566K

c.4696G>A

1 paper

NM_014877.4

p.S1564N

c.4691G>A