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.P85S

c.253C>T

Surrounding Variants

1 paper

NM_001372.4

p.L87fs

c.259_260fs

1 paper

NM_001372.4

p.L87delFs

c.261delG

1 paper

NM_001372.4

p.A82delFs

c.245delC

1 paper

NM_001372.4

p.P76P

c.228C>T

1 paper

NM_001372.4

p.P76A

c.226C>G

1 paper

NM_001372.4

p.G94_L95insFs

c.282_283ins4

1 paper

NM_001372.4

p.V74G

c.221T>G

1 paper

NM_001372.4

p.R75_G80insFs

c.224_240dup17

1 paper

NM_001372.4

p.L71R

c.212T>G

4 papers

NM_001372.4

p.L101fs

c.301_302fs

7 papers

NM_001372.4

p.F103insFs

c.308dupT

1 paper

NM_001372.4

p.R69W

c.205C>T