Varaico: Literature-Extracted Genetic Variants

DNAH2

265 papers

RefSeq Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and...

Pfam Domains

DHC_N1aa 242–394UCSCDynein heavy chain, N-terminal region 1

DHC_N1aa 408–725UCSCDynein heavy chain, N-terminal region 1

DYH2-5-8_CCaa 1033–1152UCSCDynein axonemal heavy chain 2/5/8 coiled-coil

DHC_N2aa 1220–1628UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1765–2091UCSCHydrolytic ATP binding site of dynein motor region

Gene Aliases

HGNC Name

dynein axonemal heavy chain 2

HGNC Previous Symbol

DNHD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020877.5

p.H909Q

c.2727C>G

Surrounding Variants

1 paper

NM_020877.5

p.H909Q

c.2727C>A

1 paper

NM_020877.5

p.H909Y

c.2725C>T

1 paper

NM_020877.5

p.C908S

c.2723G>C

1 paper

NM_020877.5

p.C908S

c.2722T>A

1 paper

NM_020877.5

p.R917H

c.2750G>A

3 papers

NM_020877.5

p.S883L

c.2648C>T

1 paper

NM_020877.5

p.L866F

c.2596C>T

1 paper

NM_020877.5

p.D854delFs

c.2561_2562delAT

1 paper

NM_020877.5

p.V840E

c.2519T>A

2 papers

NM_020877.5

p.R837C

c.2509C>T

2 papers

NM_020877.5

p.R830H

c.2489G>A

2 papers

NM_020877.5

p.R827W

c.2479C>T