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.I3485V

c.10453A>G

Surrounding Variants

1 paper

NM_020877.5

p.T3479I

c.10436C>T

1 paper

NM_020877.5

p.S3495G

c.10483A>G

1 paper

NM_020877.5

p.E3474K

c.10420G>A

1 paper

NM_020877.5

p.G3464fs

c.10390_10391fs

1 paper

NM_020877.5

p.G3463Splc

c.10388-4G>A

1 paper

NM_020877.5

p.Q3512_G3513Splc

c.10536+43G>T

1 paper

NM_020877.5

p.G3463Splc

c.10388-88G>A

2 papers

NM_020877.5

p.R3461Q

c.10382G>A

1 paper

NM_020877.5

p.S3458C

c.10373C>G

1 paper

NM_020877.5

p.N3540Y

c.10618A>T

1 paper

NM_020877.5

p.L3440fs

c.10318_10319fs

1 paper

NM_020877.5

p.L3440F

c.10318C>T