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.N14fs

c.40_41fs

Surrounding Variants

4 papers

NM_001372.4

p.N14insFs

c.41_42ins25

1 paper

NM_001372.4

p.E13D

c.39G>C

1 paper

NM_001372.4

p.E13D

c.39G>T

1 paper

NM_001372.4

p.A11delFs

c.33delG

1 paper

NM_001372.4

p.A11del1

c.31_32delGCG

1 paper

NM_001372.4

p.P19L

c.56C>T

1 paper

NM_001372.4

p.A8_A9insCCC

c.22_26ins9

1 paper

NM_001372.4

p.A8S

c.22G>T

1 paper

NM_001372.4

p.R7W

c.19C>T

1 paper

NM_001372.4

p.E6K

c.16G>A

1 paper

NM_001372.4

p.R7_E13del0

c.19_39del21

1 paper

NM_001372.4

p.E5Q

c.13G>C