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

1–12 of 972 variants

9 papers

NM_001372.4

p.N2195S

c.6584A>G

7 papers

NM_001372.4

p.F103insFs

c.308dupT

7 papers

NM_001372.4

p.L101delFs

c.302delT

5 papers

NM_001372.4

p.M1insFs

c.2dupT

5 papers

NM_001372.4

p.R668W

c.2002C>T

5 papers

NM_001372.4

p.G2384R

c.7150G>A

5 papers

NM_001372.4

p.G2384R

c.7150G>C

5 papers

NM_001372.4

p.P3248P

c.9744C>G

5 papers

NM_001372.4

p.R3726W

c.11176C>T

4 papers

NM_001372.4

p.N14insFs

c.41_42ins25

4 papers

NM_001372.4

p.L101fs

c.301_302fs

4 papers

NM_001372.4

p.P143P

c.429C>T