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

2 papers

NM_020877.5

p.D3355N

c.10063G>A

Surrounding Variants

1 paper

NM_020877.5

p.P3350T

c.10048C>A

1 paper

NM_020877.5

p.K3363E

c.10087A>G

1 paper

NM_020877.5

p.K3340_I3341Splc

c.10021-21A>T

1 paper

NM_020877.5

p.A3376T

c.10126G>A

1 paper

NM_020877.5

p.R3387*

c.10159C>T

1 paper

NM_020877.5

p.R3387Q

c.10160G>A

2 papers

NM_020877.5

p.R3390Splc

c.10169+3G>A

1 paper

NM_020877.5

p.G3339E

c.10016G>A

2 papers

NM_020877.5

p.Q3398R

c.10193A>G

1 paper

NM_020877.5

p.D3330E

c.9990T>A

1 paper

NM_020877.5

p.D3330E

c.9990T>G

1 paper

NM_020877.5

p.D3310G

c.9929A>G