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

1 paper

NM_001372.4

p.L130M

c.388C>A

Surrounding Variants

1 paper

NM_001372.4

p.P129T

c.385C>A

1 paper

NM_001372.4

p.L133Q

c.398T>A

1 paper

NM_001372.4

p.P126_A127delFs

c.378_379delCG

1 paper

NM_001372.4

p.G123R

c.367G>A

1 paper

NM_001372.4

p.F137Y

c.410T>A

1 paper

NM_001372.4

p.D114N

c.340G>A

1 paper

NM_001372.4

p.D114fs

c.340_341fs

1 paper

NM_001372.4

p.G112fs

c.334_335fs

1 paper

NM_001372.4

p.G112delFs

c.335_336delGG

1 paper

NM_001372.4

p.P111Q

c.332C>A

1 paper

NM_001372.4

p.P110S

c.328C>T

1 paper

NM_001372.4

p.L104I

c.310C>A