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.L762_L763delFs

c.2286_2287delGC

Surrounding Variants

1 paper

NM_020877.5

p.S767R

c.2299A>C

1 paper

NM_020877.5

p.S767R

c.2301T>A

1 paper

NM_020877.5

p.S767R

c.2301T>G

1 paper

NM_020877.5

p.Q756fs

c.2266_2267fs

1 paper

NM_020877.5

p.Q756_M758Fs

c.2266_2273delinsAATGFs

1 paper

NM_020877.5

p.R754P

c.2261G>C

1 paper

NM_020877.5

p.W753S

c.2258G>C

1 paper

NM_020877.5

p.W753R

c.2257T>A

1 paper

NM_020877.5

p.W753R

c.2257T>C

1 paper

NM_020877.5

p.L792fs

c.2374_2375fs

1 paper

NM_020877.5

p.L792_M793delFs

c.2376_2377delGA

2 papers

NM_020877.5

p.P815S

c.2443C>T