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.L1077P

c.3230T>C

Surrounding Variants

1 paper

NM_014877.4

p.T1081A

c.3241A>G

1 paper

NM_014877.4

p.L1070L

c.3208C>T

1 paper

NM_014877.4

p.A1069T

c.3205G>A

1 paper

NM_014877.4

p.R1066Q

c.3197G>A

1 paper

NM_014877.4

p.R1066W

c.3196C>T

1 paper

NM_014877.4

p.K1096N

c.3288G>T

1 paper

NM_014877.4

p.K1096N

c.3288G>C

1 paper

NM_014877.4

p.Y1098H

c.3292T>C

1 paper

NM_014877.4

p.P1105A

c.3313C>G

1 paper

NM_014877.4

p.F1107V

c.3319T>G

2 papers

NM_014877.4

p.I1108V

c.3322A>G

1 paper

NM_014877.4

p.Q1137*

c.3409C>T