Varaico: Literature-Extracted Genetic Variants

DNAH9

458 papers

RefSeq Summary

This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and fl...

Pfam Domains

DHC_N1aa 214–789UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1292–1698UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1832–2158UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2314–2434UCSCDynein heavy chain AAA lid domain

AAA_7aa 2439–2618UCSCP-loop containing dynein motor region

AAA_lid_1aa 2651–2750UCSCAAA+ lid domain

Gene Aliases

HGNC Name

dynein axonemal heavy chain 9

HGNC Previous Symbol

DNAH17L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001372.4

p.L101delFs

c.302delT

Surrounding Variants

4 papers

NM_001372.4

p.L101fs

c.301_302fs

7 papers

NM_001372.4

p.F103insFs

c.308dupT

2 papers

NM_001372.4

p.F103fs

c.307_308fs

1 paper

NM_001372.4

p.F103Y

c.308T>A

1 paper

NM_001372.4

p.L104I

c.310C>A

2 papers

NM_001372.4

p.L104fs

c.310_311fs

1 paper

NM_001372.4

p.G94_L95insFs

c.282_283ins4

1 paper

NM_001372.4

p.P110S

c.328C>T

1 paper

NM_001372.4

p.P111Q

c.332C>A

1 paper

NM_001372.4

p.G112delFs

c.335_336delGG

1 paper

NM_001372.4

p.G112fs

c.334_335fs

1 paper

NM_001372.4

p.D114N

c.340G>A