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.A3611T

c.10831G>A

Surrounding Variants

1 paper

NM_020877.5

p.I3616I

c.10848C>A

1 paper

NM_020877.5

p.E3605_A3606Splc

c.10816-5G>A

1 paper

NM_020877.5

p.S3634L

c.10901C>T

1 paper

NM_020877.5

p.I3639T

c.10916T>C

3 papers

NM_020877.5

p.R3651H

c.10952G>A

1 paper

NM_020877.5

p.R3658H

c.10973G>A

1 paper

NM_020877.5

p.D3660H

c.10978G>C

1 paper

NM_020877.5

p.A3603A

c.10809G>A

1 paper

NM_020877.5

p.A3603V

c.10808C>T

1 paper

NM_020877.5

p.D3601G

c.10802A>G

5 papers

NM_020877.5

p.T3600I

c.10799C>T

1 paper

NM_020877.5

p.T3596I

c.10787C>T