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.A1232V

c.3695C>T

Surrounding Variants

1 paper

NM_014877.4

p.Y1235*

c.3705T>G

1 paper

NM_014877.4

p.L1240*

c.3719T>G

1 paper

NM_014877.4

p.A1221E

c.3662C>A

1 paper

NM_014877.4

p.G1201R

c.3601G>C

1 paper

NM_014877.4

p.G1201R

c.3601G>A

1 paper

NM_014877.4

p.V1153E

c.3458T>A

1 paper

NM_014877.4

p.P1151S

c.3451C>T

1 paper

NM_014877.4

p.G1145E

c.3434G>A

1 paper

NM_014877.4

p.Q1137*

c.3409C>T

1 paper

NM_014877.4

p.G1288R

c.3862G>C

1 paper

NM_014877.4

p.G1288R

c.3862G>A

2 papers

NM_014877.4

p.I1108V

c.3322A>G