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.K2275I

c.6824A>T

Surrounding Variants

1 paper

NM_001206927.2

p.V2264A

c.6791T>C

1 paper

NM_001206927.2

p.E2260K

c.6778G>A

1 paper

NM_001206927.2

p.G2249E

c.6746G>A

1 paper

NM_001206927.2

p.V2244I

c.6730G>A

4 papers

NM_001206927.2

p.K2230R

c.6689A>G

1 paper

NM_001206927.2

p.F2217C

c.6650T>G

2 papers

NM_001206927.2

p.M2189V

c.6565A>G

1 paper

NM_001206927.2

p.A2171T

c.6511G>A

1 paper

NM_001206927.2

p.G2169R

c.6505G>A

1 paper

NM_001206927.2

p.P2168S

c.6502C>T

1 paper

NM_001206927.2

p.L2276_V2277Splc

c.6829-192G>A

1 paper

NM_001206927.2

p.L2276_V2277Splc

c.6829-1G>C