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.S1529S

c.4587C>T

Surrounding Variants

1 paper

NM_014877.4

p.P1531T

c.4591C>A

1 paper

NM_014877.4

p.P1544S

c.4630C>T

1 paper

NM_014877.4

p.Q1512R

c.4535A>G

1 paper

NM_014877.4

p.L1550fs

c.4648_4649fs

1 paper

NM_014877.4

p.R1556W

c.4666A>T

1 paper

NM_014877.4

p.S1563N

c.4688G>A

1 paper

NM_014877.4

p.S1564N

c.4691G>A

1 paper

NM_014877.4

p.E1566K

c.4696G>A

1 paper

NM_014877.4

p.A1437S

c.4309G>T

1 paper

NM_014877.4

p.P1417P

c.4251T>C

1 paper

NM_014877.4

p.P1416P

c.4248T>C

1 paper

NM_014877.4

p.S1406R

c.4218T>G