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.M2372L

c.7114A>C

Surrounding Variants

1 paper

NM_001206927.2

p.M2372V

c.7114A>G

1 paper

NM_001206927.2

p.M2372L

c.7114A>T

2 papers

NM_001206927.2

p.N2375H

c.7123A>C

1 paper

NM_001206927.2

p.P2376insFs

c.7127_7128insTT

1 paper

NM_001206927.2

p.Q2362*

c.7084C>T

2 papers

NM_001206927.2

p.A2361V

c.7082C>T

1 paper

NM_001206927.2

p.F2385delFs

c.7153delT

1 paper

NM_001206927.2

p.F2385fs

c.7153_7154fs

3 papers

NM_001206927.2

p.A2391S

c.7171G>T

1 paper

NM_001206927.2

p.D2397N

c.7189G>A

2 papers

NM_001206927.2

p.L2341F

c.7023G>C

2 papers

NM_001206927.2

p.L2341F

c.7023G>T