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.V2149G

c.6446T>G

Surrounding Variants

3 papers

NM_001372.4

p.A2153T

c.6457G>A

2 papers

NM_001372.4

p.R2144Q

c.6431G>A

2 papers

NM_001372.4

p.R2144W

c.6430C>T

3 papers

NM_001372.4

p.R2162K

c.6485G>A

1 paper

NM_001372.4

p.V2134V

c.6402G>A

1 paper

NM_001372.4

p.H2165N

c.6493C>A

1 paper

NM_001372.4

p.R2173W

c.6517C>T

1 paper

NM_001372.4

p.R2173Q

c.6518G>A

1 paper

NM_001372.4

p.R2174C

c.6520C>T

1 paper

NM_001372.4

p.R2174H

c.6521G>A

1 paper

NM_001372.4

p.T2178S

c.6533C>G

1 paper

NM_001372.4

p.E2189K

c.6565G>A