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.G385insFs

c.1154_1155ins5

Surrounding Variants

1 paper

NM_001206927.2

p.D386Y

c.1156G>T

1 paper

NM_001206927.2

p.A384V

c.1151C>T

1 paper

NM_001206927.2

p.E383A

c.1148A>C

1 paper

NM_001206927.2

p.P389T

c.1165C>A

1 paper

NM_001206927.2

p.M380I

c.1140G>A

1 paper

NM_001206927.2

p.M380I

c.1140G>C

1 paper

NM_001206927.2

p.M380I

c.1140G>T

1 paper

NM_001206927.2

p.L390P

c.1169T>C

4 papers

NM_001206927.2

p.E378_Q379del2

c.1132_1136del6

1 paper

NM_001206927.2

p.E376Q

c.1126G>C

1 paper

NM_001206927.2

p.H395Q

c.1185C>G

1 paper

NM_001206927.2

p.R398L

c.1193G>T