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

Selected Variant

1 paper

NM_001009984.3

p.S944N

c.2831G>A

Surrounding Variants

1 paper

NM_001009984.3

p.S950P

c.2848T>C

1 paper

NM_001009984.3

p.S938fs

c.2812_2813fs

1 paper

NM_001009984.3

p.S938delFs

c.2812_2813delGA

1 paper

NM_001009984.3

p.R929S

c.2787G>C

1 paper

NM_001009984.3

p.W958Splc

c.2874-1138A>G

1 paper

NM_001009984.3

p.M972T

c.2915T>C

1 paper

NM_001009984.3

p.P1003H

c.3008C>A

1 paper

NM_001009984.3

p.G1006R

c.3016G>C

1 paper

NM_001009984.3

p.G1006R

c.3016G>A

1 paper

NM_001009984.3

p.N914S

c.2741A>G

1 paper

NM_001009984.3

p.A913P

c.2737G>C

2 papers

NM_001009984.3

p.I910M

c.2730C>G