Varaico: Literature-Extracted Genetic Variants

DNAH8

291 papers

RefSeq Summary

The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to micro...

Pfam Domains

DHC_N1aa 139–693UCSCDynein heavy chain, N-terminal region 1

DYH2-5-8_CCaa 1081–1200UCSCDynein axonemal heavy chain 2/5/8 coiled-coil

DHC_N2aa 1268–1673UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1808–2135UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2290–2410UCSCDynein heavy chain AAA lid domain

AAA_7aa 2417–2598UCSCP-loop containing dynein motor region

Gene Aliases

HGNC Name

dynein axonemal heavy chain 8

HGNC Alias Symbol

hdhc9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001206927.2

p.L3908I

c.11722C>A

Surrounding Variants

1 paper

NM_001206927.2

p.F3910Y

c.11729T>A

1 paper

NM_001206927.2

p.E3914D

c.11742G>C

1 paper

NM_001206927.2

p.E3914D

c.11742G>T

1 paper

NM_001206927.2

p.T3924K

c.11771C>A

6 papers

NM_001206927.2

p.T3924M

c.11771C>T

1 paper

NM_001206927.2

p.Q3872K

c.11614C>A

1 paper

NM_001206927.2

p.R3868G

c.11602C>G

1 paper

NM_001206927.2

p.R3868*

c.11602C>T

1 paper

NM_001206927.2

p.G3865delFs

c.11593delG

1 paper

NM_001206927.2

p.K3942delFs

c.11824_11825delAA

1 paper

NM_001206927.2

p.K3942fs

c.11824_11825fs

1 paper

NM_001206927.2

p.S3943*

c.11828C>A