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

1–12 of 25 variants

1 paper

NM_001367614.1

p.G4C

c.10G>T

1 paper

NM_001367614.1

p.G4D

c.11G>A

1 paper

NM_001367614.1

p.V8_P9delFs

c.24_25delGG

1 paper

NM_001367614.1

p.H24_E25del2

c.70_74del6

1 paper

NM_001367614.1

p.L32S

c.95T>C

1 paper

NM_001367614.1

p.L74V

c.220C>G

1 paper

NM_001367614.1

p.A83V

c.248C>T

1 paper

NM_001367614.1

p.V110D

c.329T>A

1 paper

NM_001367614.1

p.P112S

c.334C>T

1 paper

NM_001367614.1

p.F128_K129delFs

c.384_387del4

1 paper

NM_001367614.1

p.Y141F

c.422A>T

1 paper

NM_001367614.1

p.V160insFs

c.479_480insAG