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.C159Fs

c.475delinsGCFs

Surrounding Variants

1 paper

NM_001372.4

p.E160K

c.478G>A

1 paper

NM_001372.4

p.V162I

c.484G>A

1 paper

NM_001372.4

p.W154*

c.461G>A

1 paper

NM_001372.4

p.R151H

c.452G>A

1 paper

NM_001372.4

p.R151C

c.451C>T

1 paper

NM_001372.4

p.L169_C171delFs

c.507_511del5

1 paper

NM_001372.4

p.Q170H

c.510A>C

1 paper

NM_001372.4

p.Q170H

c.510A>T

2 papers

NM_001372.4

p.C171Y

c.512G>A

1 paper

NM_001372.4

p.V144I

c.430G>A

4 papers

NM_001372.4

p.P143P

c.429C>T

1 paper

NM_001372.4

p.P143_L145del3

c.427_434del9