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.E3235K

c.9703G>A

Surrounding Variants

1 paper

NM_001372.4

p.D3247H

c.9739G>C

5 papers

NM_001372.4

p.P3248P

c.9744C>G

1 paper

NM_001372.4

p.N3251S

c.9752A>G

1 paper

NM_001372.4

p.A3216G

c.9647C>G

1 paper

NM_001372.4

p.V3213I

c.9637G>A

1 paper

NM_001372.4

p.T3257I

c.9770C>T

1 paper

NM_001372.4

p.W3208fs

c.9622_9623fs

1 paper

NM_001372.4

p.W3208delFs

c.9622delT

2 papers

NM_001372.4

p.R3206W

c.9616C>T

1 paper

NM_001372.4

p.K3204E

c.9610A>G

1 paper

NM_001372.4

p.R3201W

c.9601A>T

1 paper

NM_001372.4

p.G3200D

c.9599G>A