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.Q3783H

c.11349G>C

Surrounding Variants

1 paper

NM_001372.4

p.Q3783H

c.11349G>T

1 paper

NM_001372.4

p.A3787T

c.11359G>A

1 paper

NM_001372.4

p.R3779*

c.11335C>T

1 paper

NM_001372.4

p.Q3796K

c.11386C>A

1 paper

NM_001372.4

p.W3798fs

c.11392_11393fs

1 paper

NM_001372.4

p.W3798delFs

c.11393delG

1 paper

NM_001372.4

p.E3768K

c.11302G>A

1 paper

NM_001372.4

p.N3766I

c.11297A>T

1 paper

NM_001372.4

p.I3762N

c.11285T>A

1 paper

NM_001372.4

p.Q3761_I3762Splc

c.11284-63C>T

1 paper

NM_001372.4

p.T3742N

c.11225C>A

1 paper

NM_001372.4

p.Q3740K

c.11218C>A