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

3 papers

NM_020877.5

p.H98H

c.294T>C

Surrounding Variants

1 paper

NM_020877.5

p.I101insFs

c.302dupT

1 paper

NM_020877.5

p.Q96L

c.287A>T

1 paper

NM_020877.5

p.W94_T95insFs

c.282_283ins4

1 paper

NM_020877.5

p.A92E

c.275C>A

1 paper

NM_020877.5

p.P109P

c.327T>A

1 paper

NM_020877.5

p.E111*

c.331G>T

1 paper

NM_020877.5

p.S112delFs

c.335_336delCC

1 paper

NM_020877.5

p.K77E

c.229A>G

1 paper

NM_020877.5

p.P120R

c.359C>G

1 paper

NM_020877.5

p.G123R

c.367G>A

1 paper

NM_020877.5

p.E71delFs

c.211delG

1 paper

NM_020877.5

p.Q135K

c.403C>A