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.A3015T

c.9043G>A

Surrounding Variants

1 paper

NM_001206927.2

p.A3015_M3016delFs

c.9045_9046delAA

1 paper

NM_001206927.2

p.K3013_D3014insFs

c.9039_9040ins5

1 paper

NM_001206927.2

p.K3021Q

c.9061A>C

1 paper

NM_001206927.2

p.Q2995H

c.8985G>C

1 paper

NM_001206927.2

p.Q2995H

c.8985G>T

1 paper

NM_001206927.2

p.P2982R

c.8945C>G

1 paper

NM_001206927.2

p.R3024*

c.9070C>T

1 paper

NM_001206927.2

p.R3027Q

c.9080G>A

4 papers

NM_001206927.2

p.R3065Splc

c.9194+1G>A

1 paper

NM_001206927.2

p.G2964S

c.8890G>A

1 paper

NM_001206927.2

p.R2957C

c.8869C>T

1 paper

NM_001206927.2

p.D2954A

c.8861A>C