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

2 papers

NM_001206927.2

p.K127fs

c.379_380fs

Surrounding Variants

1 paper

NM_001206927.2

p.K127delFs

c.381delA

4 papers

NM_001206927.2

p.L126_K127delFs

c.378_379delAA

1 paper

NM_001206927.2

p.P120_N121insFs

c.360_361insC

1 paper

NM_001206927.2

p.S115_L122del8

c.343_365del24

1 paper

NM_001206927.2

p.R113C

c.337C>T

1 paper

NM_001206927.2

p.Y112delFs

c.335_336delAC

1 paper

NM_001206927.2

p.L101insFs

c.302dupT

1 paper

NM_001206927.2

p.Q94_S95insFs

c.282_283ins4

1 paper

NM_001206927.2

p.R91Q

c.272G>A

2 papers

NM_001206927.2

p.R91*

c.271C>T

1 paper

NM_001206927.2

p.P90L

c.269C>T

2 papers

NM_001206927.2

p.A89V

c.266C>T