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.M2166_N2167Splc

c.6498+106A>G

Surrounding Variants

1 paper

NM_001206927.2

p.I2162I

c.6486C>A

1 paper

NM_001206927.2

p.D2155G

c.6464A>G

1 paper

NM_001206927.2

p.D2152Y

c.6454G>T

1 paper

NM_001206927.2

p.S2149fs

c.6445_6446fs

1 paper

NM_001206927.2

p.S2149insFs

c.6445dupT

1 paper

NM_001206927.2

p.Q2145*

c.6433C>T

1 paper

NM_001206927.2

p.K2140_E2141delFs

c.6418_6421del4

1 paper

NM_001206927.2

p.K2140_E2141del2

c.6418_6422del6

1 paper

NM_001206927.2

p.T2137A

c.6409A>G

1 paper

NM_001206927.2

p.I2120T

c.6359T>C

1 paper

NM_001206927.2

p.G2109C

c.6325G>T

1 paper

NM_001206927.2

p.S2108L

c.6323C>T