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.K657Splc

c.1971-49T>C

Surrounding Variants

2 papers

NM_001372.4

p.W666*

c.1997G>A

2 papers

NM_001372.4

p.W666L

c.1997G>T

2 papers

NM_001372.4

p.W666*

c.1998G>A

5 papers

NM_001372.4

p.R668W

c.2002C>T

1 paper

NM_001372.4

p.S671S

c.2013A>G

1 paper

NM_001372.4

p.E672D

c.2016G>C

1 paper

NM_001372.4

p.E672D

c.2016G>T

1 paper

NM_001372.4

p.R685C

c.2053C>T

1 paper

NM_001372.4

p.P687insFs

c.2061dupA

2 papers

NM_001372.4

p.T689M

c.2066C>T

1 paper

NM_001372.4

p.T693_I694del1

c.2079_2081delTAT

1 paper

NM_001372.4

p.N695T

c.2084A>C