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.L172F

c.514C>T

Surrounding Variants

1 paper

NM_020877.5

p.G176S

c.526G>A

1 paper

NM_020877.5

p.R164R

c.492G>A

1 paper

NM_020877.5

p.E191*

c.571G>T

1 paper

NM_020877.5

p.Q144*

c.430C>T

1 paper

NM_020877.5

p.L201M

c.601C>A

1 paper

NM_020877.5

p.L201_H202insFs

c.603_604insG

1 paper

NM_020877.5

p.R143_A145del3

c.427_434del9

1 paper

NM_020877.5

p.I142V

c.424A>G

1 paper

NM_020877.5

p.F141S

c.422T>C

2 papers

NM_020877.5

p.A206delFs

c.616delG

1 paper

NM_020877.5

p.A206fs

c.616_617fs

1 paper

NM_020877.5

p.Q135K

c.403C>A