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

2 papers

NM_001372.4

p.E2368K

c.7102G>A

Surrounding Variants

1 paper

NM_001372.4

p.E2368G

c.7103A>G

1 paper

NM_001372.4

p.I2361_A2363delFs

c.7082_7088del7

1 paper

NM_001372.4

p.L2356L

c.7066C>T

5 papers

NM_001372.4

p.G2384R

c.7150G>A

5 papers

NM_001372.4

p.G2384R

c.7150G>C

1 paper

NM_001372.4

p.D2389V

c.7166A>T

1 paper

NM_001372.4

p.Q2390R

c.7169A>G

1 paper

NM_001372.4

p.P2338L

c.7013C>T

1 paper

NM_001372.4

p.V2392_D2393Fs

c.7176_7177delinsCFs

1 paper

NM_001372.4

p.Y2394C

c.7181A>G

2 papers

NM_001372.4

p.R2395Q

c.7184G>A

1 paper

NM_001372.4

p.G2415E

c.7244G>A