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

4 papers

NM_020877.5

p.R4255Q

c.12764G>A

Surrounding Variants

1 paper

NM_020877.5

p.L4250L

c.12748T>C

1 paper

NM_020877.5

p.E4262V

c.12785A>T

1 paper

NM_020877.5

p.R4270Q

c.12809G>A

1 paper

NM_020877.5

p.S4295F

c.12884C>T

1 paper

NM_020877.5

p.R4298H

c.12893G>A

1 paper

NM_020877.5

p.S4306N

c.12917G>A

3 papers

NM_020877.5

p.P4325R

c.12974C>G

1 paper

NM_020877.5

p.R4332W

c.12994C>T

1 paper

NM_020877.5

p.R4343W

c.13027C>T

10 papers

NM_020877.5

p.V4357D

c.13070T>A

1 paper

NM_020877.5

p.F4365S

c.13094T>C

1 paper

NM_020877.5

p.E4369Q

c.13105G>C