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.K4230N

c.12690A>C

Surrounding Variants

1 paper

NM_001206927.2

p.K4230N

c.12690A>T

1 paper

NM_001206927.2

p.E4234G

c.12701A>G

1 paper

NM_001206927.2

p.R4240C

c.12718C>T

5 papers

NM_001206927.2

p.A4241T

c.12721G>A

1 paper

NM_001206927.2

p.T4246I

c.12737C>T

1 paper

NM_001206927.2

p.M4262I

c.12786G>A

1 paper

NM_001206927.2

p.M4262I

c.12786G>C

1 paper

NM_001206927.2

p.M4262I

c.12786G>T

1 paper

NM_001206927.2

p.L4224W

c.12671T>G

1 paper

NM_001206927.2

p.R4219Q

c.12656G>A

1 paper

NM_001206927.2

p.H4217H

c.12651T>C

1 paper

NM_001206927.2

p.V4210A

c.12629T>C