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

1–12 of 727 variants

6 papers

NM_001206927.2

p.T3924M

c.11771C>T

5 papers

NM_001206927.2

p.H2321_P2323delFs

c.6962_6968del7

5 papers

NM_001206927.2

p.A4241T

c.12721G>A

4 papers

NM_001206927.2

p.L126_K127delFs

c.378_379delAA

4 papers

NM_001206927.2

p.E378_Q379del2

c.1132_1136del6

4 papers

NM_001206927.2

p.V1161_H1163delFs

c.3483_3489del7

4 papers

NM_001206927.2

p.E1636D

c.4908G>C

4 papers

NM_001206927.2

p.E1636D

c.4908G>T

4 papers

NM_001206927.2

p.K2230R

c.6689A>G

4 papers

NM_001206927.2

p.R3065Splc

c.9194+1G>A

4 papers

NM_001206927.2

p.R3143C

c.9427C>T

4 papers

NM_001206927.2

p.R4166*

c.12496C>T