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

4 papers

NM_001206927.2

p.R3143C

c.9427C>T

Surrounding Variants

1 paper

NM_001206927.2

p.F3148L

c.9442T>C

1 paper

NM_001206927.2

p.F3148L

c.9444T>A

1 paper

NM_001206927.2

p.F3148L

c.9444T>G

1 paper

NM_001206927.2

p.R3158K

c.9473G>A

1 paper

NM_001206927.2

p.I3117F

c.9349A>T

1 paper

NM_001206927.2

p.A3178S

c.9532G>T

1 paper

NM_001206927.2

p.R3179C

c.9535C>T

1 paper

NM_001206927.2

p.R3197S

c.9589C>A

1 paper

NM_001206927.2

p.E3201K

c.9601G>A

1 paper

NM_001206927.2

p.G3115E

c.9344G>A

1 paper

NM_001206927.2

p.E3221*

c.9661G>T

1 paper

NM_001206927.2

p.L3111F

c.9333G>C