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.A47E

c.140C>A

Surrounding Variants

1 paper

NM_001372.4

p.G48_S49del1

c.143_145delGGA

1 paper

NM_001372.4

p.A52E

c.155C>A

1 paper

NM_001372.4

p.A42P

c.124G>C

1 paper

NM_001372.4

p.G41S

c.121G>A

1 paper

NM_001372.4

p.G41R

c.121G>C

1 paper

NM_001372.4

p.A39T

c.115G>A

1 paper

NM_001372.4

p.P38S

c.112C>T

1 paper

NM_001372.4

p.R37W

c.109C>T

1 paper

NM_001372.4

p.F59V

c.175T>G

1 paper

NM_001372.4

p.L60L

c.180G>A

1 paper

NM_001372.4

p.D63N

c.187G>A

1 paper

NM_001372.4

p.T30delFs

c.89delC