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

4 papers

NM_001206927.2

p.E1636D

c.4908G>C

Surrounding Variants

4 papers

NM_001206927.2

p.E1636D

c.4908G>T

1 paper

NM_001206927.2

p.E1628G

c.4883A>G

1 paper

NM_001206927.2

p.I1627I

c.4881C>T

1 paper

NM_001206927.2

p.K1649K

c.4947G>A

1 paper

NM_001206927.2

p.S1661*

c.4982C>A

1 paper

NM_001206927.2

p.S1671G

c.5011A>G

1 paper

NM_001206927.2

p.I1614V

c.4840A>G

1 paper

NM_001206927.2

p.D1612G

c.4835A>G

1 paper

NM_001206927.2

p.L1608R

c.4823T>G

1 paper

NM_001206927.2

p.P1606Q

c.4817C>A

1 paper

NM_001206927.2

p.A1605T

c.4813G>A

1 paper

NM_001206927.2

p.E1593G

c.4778A>G