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.V1161M

c.3481G>A

Surrounding Variants

4 papers

NM_001206927.2

p.V1161_H1163delFs

c.3483_3489del7

2 papers

NM_001206927.2

p.T1162fs

c.3484_3485fs

1 paper

NM_001206927.2

p.T1162T

c.3486C>T

1 paper

NM_001206927.2

p.S1155R

c.3465C>A

1 paper

NM_001206927.2

p.S1155R

c.3465C>G

1 paper

NM_001206927.2

p.S1155R

c.3463A>C

1 paper

NM_001206927.2

p.P1154_S1155ins5

c.3460_3464ins15

1 paper

NM_001206927.2

p.K1171*

c.3511A>T

1 paper

NM_001206927.2

p.Q1144E

c.3430C>G

1 paper

NM_001206927.2

p.G1142_Q1143insFs

c.3426_3427insG

1 paper

NM_001206927.2

p.H1140R

c.3419A>G

1 paper

NM_001206927.2

p.I1128N

c.3383T>A