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.R2523*

c.7567C>T

Surrounding Variants

1 paper

NM_020877.5

p.G2474R

c.7420G>A

1 paper

NM_020877.5

p.G2474R

c.7420G>C

1 paper

NM_020877.5

p.V2471M

c.7411G>A

1 paper

NM_020877.5

p.I2458T

c.7373T>C

1 paper

NM_020877.5

p.T2423A

c.7267A>G

1 paper

NM_020877.5

p.V2418E

c.7253T>A

1 paper

NM_020877.5

p.V2418M

c.7252G>A

1 paper

NM_020877.5

p.G2416D

c.7247G>A

2 papers

NM_020877.5

p.I2412S

c.7235T>G

1 paper

NM_020877.5

p.Q2409K

c.7225C>A

1 paper

NM_020877.5

p.V2393I

c.7177G>A

1 paper

NM_020877.5

p.S2376_W2377del2

c.7126_7130del6