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.D1855insFs

c.5563_5564insA

Surrounding Variants

1 paper

NM_020877.5

p.F1857L

c.5569T>C

1 paper

NM_020877.5

p.F1857L

c.5571T>A

1 paper

NM_020877.5

p.F1857L

c.5571T>G

1 paper

NM_020877.5

p.N1861D

c.5581A>G

2 papers

NM_020877.5

p.I1862I

c.5586C>T

1 paper

NM_020877.5

p.V1864delFs

c.5590_5591delGT

1 paper

NM_020877.5

p.G1882D

c.5645G>A

1 paper

NM_020877.5

p.F1902L

c.5704T>C

1 paper

NM_020877.5

p.F1902L

c.5706C>A

1 paper

NM_020877.5

p.F1902L

c.5706C>G

1 paper

NM_020877.5

p.G1908S

c.5722G>A

1 paper

NM_020877.5

p.K1836R

c.5507A>G