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.I1657V

c.4969A>G

Surrounding Variants

1 paper

NM_020877.5

p.D1662G

c.4985A>G

1 paper

NM_020877.5

p.V1651delFs

c.4952delT

1 paper

NM_020877.5

p.V1650V

c.4950G>A

2 papers

NM_020877.5

p.A1670A

c.5010G>A

1 paper

NM_020877.5

p.R1673G

c.5017C>G

1 paper

NM_020877.5

p.Q1686_V1687Splc

c.5058+115C>T

1 paper

NM_020877.5

p.K1692E

c.5074A>G

1 paper

NM_020877.5

p.W1642*

c.4926G>A

1 paper

NM_020877.5

p.W1642*

c.4925G>A

1 paper

NM_020877.5

p.R1698delFs

c.5092delA

1 paper

NM_020877.5

p.K1703N

c.5109G>C

1 paper

NM_020877.5

p.K1703N

c.5109G>T