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.R3100Q

c.9299G>A

Surrounding Variants

4 papers

NM_020877.5

p.R3100W

c.9298C>T

1 paper

NM_020877.5

p.E3097D

c.9291G>T

1 paper

NM_020877.5

p.A3091S

c.9271G>T

1 paper

NM_020877.5

p.R3100_A3101Splc

c.9300+37G>A

1 paper

NM_020877.5

p.E3074K

c.9220G>A

1 paper

NM_020877.5

p.R3118W

c.9352C>T

1 paper

NM_020877.5

p.P3120L

c.9359C>T

1 paper

NM_020877.5

p.E3142*

c.9424G>T

1 paper

NM_020877.5

p.E3016D

c.9048A>C

1 paper

NM_020877.5

p.E3016D

c.9048A>T

1 paper

NM_020877.5

p.L3007V

c.9019C>G

1 paper

NM_020877.5

p.A3002T

c.9004G>A