Varaico: Literature-Extracted Genetic Variants

DNAAF9

62 papers

RefSeq Summary

This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gen...

Pfam Domains

DAAF9_Naa 12–217UCSCDynein axonemal assembly factor 9 N-terminal domain

PB_DAAF9aa 220–500UCSCDAAF9 Pita bread like domain

PH_DAAF9aa 516–720UCSCDAAF9 PH domain

DAAF9_2aa 749–958UCSCDAAF9 domain

CobW_C_DAAF9aa 973–1041UCSCDAAF9 CobW_C-like domain

Gene Aliases

HGNC Name

dynein axonemal assembly factor 9

HGNC Previous Symbol

C20orf194

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

2 papers

NM_001009984.3

p.Y116C

c.347A>G

2 papers

NM_001009984.3

p.I910M

c.2730C>G

1 paper

NM_001009984.3

p.P12S

c.34C>T

1 paper

NM_001009984.3

p.Q41L

c.122A>T

1 paper

NM_001009984.3

p.S45A

c.133T>G

1 paper

NM_001009984.3

p.P47fs

c.139_140fs

1 paper

NM_001009984.3

p.N69T

c.206A>C

1 paper

NM_001009984.3

p.L75W

c.224T>G

1 paper

NM_001009984.3

p.D82G

c.245A>G

1 paper

NM_001009984.3

p.P111H

c.332C>A

1 paper

NM_001009984.3

p.A122T

c.364G>A

1 paper

NM_001009984.3

p.E138K

c.412G>A