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.L2947F

c.8839C>T

Surrounding Variants

1 paper

NM_001206927.2

p.Y2951C

c.8852A>G

1 paper

NM_001206927.2

p.D2954A

c.8861A>C

1 paper

NM_001206927.2

p.R2957C

c.8869C>T

1 paper

NM_001206927.2

p.V2934A

c.8801T>C

1 paper

NM_001206927.2

p.R2932C

c.8794C>T

1 paper

NM_001206927.2

p.G2964S

c.8890G>A

1 paper

NM_001206927.2

p.E2923*

c.8767G>T

1 paper

NM_001206927.2

p.E2921*

c.8761G>T

1 paper

NM_001206927.2

p.R2916Splc

c.8747+4C>A

1 paper

NM_001206927.2

p.F2905delFs

c.8714delT

1 paper

NM_001206927.2

p.S2897L

c.8690C>T

1 paper

NM_001206927.2

p.S2881F

c.8642C>T