Varaico: Literature-Extracted Genetic Variants

DZANK1

26 papers

RefSeq Summary

This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alph...

Pfam Domains

Fn3_assocaa 32–100UCSCFn3 associated

DZRaa 358–406UCSCDouble zinc ribbon

Ank_2aa 641–732UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

double zinc ribbon and ankyrin repeat domains 1

HGNC Previous Symbols

C20orf84; C20orf12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367614.1

p.A243D

c.728C>A

Surrounding Variants

1 paper

NM_001367614.1

p.M219I

c.657G>T

1 paper

NM_001367614.1

p.M219I

c.657G>C

1 paper

NM_001367614.1

p.M219I

c.657G>A

1 paper

NM_001367614.1

p.V160insFs

c.479_480insAG