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.V58E

c.173T>A

Surrounding Variants

1 paper

NM_001206927.2

p.Y61*

c.183T>G

1 paper

NM_001206927.2

p.S48F

c.143C>T

1 paper

NM_001206927.2

p.S48P

c.142T>C

1 paper

NM_001206927.2

p.S48_P49del1

c.143_145delCTC

1 paper

NM_001206927.2

p.I71L

c.211A>T

1 paper

NM_001206927.2

p.A43insFs

c.128_129insT

1 paper

NM_001206927.2

p.P74delFs

c.220delC

1 paper

NM_001206927.2

p.P42P

c.126G>A

1 paper

NM_001206927.2

p.P74Q

c.221C>A

1 paper

NM_001206927.2

p.P42L

c.125C>T

1 paper

NM_001206927.2

p.D80H

c.238G>C

1 paper

NM_001206927.2

p.P36L

c.107C>T