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.K297R

c.890A>G

Surrounding Variants

4 papers

NM_020877.5

p.S312T

c.934T>A

1 paper

NM_020877.5

p.R282_N283ins4

c.844_848ins12

1 paper

NM_020877.5

p.R282C

c.844C>T

1 paper

NM_020877.5

p.E276G

c.827A>G

1 paper

NM_020877.5

p.T268K

c.803C>A

1 paper

NM_020877.5

p.E264Q

c.790G>C

2 papers

NM_020877.5

p.R254W

c.760C>T

1 paper

NM_020877.5

p.S248S

c.744C>G

1 paper

NM_020877.5

p.L245L

c.733C>T

1 paper

NM_020877.5

p.R244W

c.730C>T

1 paper

NM_020877.5

p.K239T

c.716A>C

1 paper

NM_020877.5

p.K239insFs

c.715dupA