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.S1538F

c.4613C>T

Surrounding Variants

1 paper

NM_020877.5

p.R1533H

c.4598G>A

1 paper

NM_020877.5

p.P1532T

c.4594C>A

1 paper

NM_020877.5

p.R1528*

c.4582C>T

1 paper

NM_020877.5

p.Y1523*

c.4569T>A

1 paper

NM_020877.5

p.Y1523*

c.4569T>G

1 paper

NM_020877.5

p.K1561fs

c.4681_4682fs

1 paper

NM_020877.5

p.D1590N

c.4768G>A

1 paper

NM_020877.5

p.D1590Y

c.4768G>T

1 paper

NM_020877.5

p.E1592K

c.4774G>A

1 paper

NM_020877.5

p.P1605S

c.4813C>T

1 paper

NM_020877.5

p.R1626Q

c.4877G>A

1 paper

NM_020877.5

p.W1642*

c.4925G>A