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.R1969K

c.5906G>A

Surrounding Variants

1 paper

NM_020877.5

p.R1978C

c.5932C>T

1 paper

NM_020877.5

p.R1991H

c.5972G>A

2 papers

NM_020877.5

p.P1995L

c.5984C>T

1 paper

NM_020877.5

p.D1996N

c.5986G>A

2 papers

NM_020877.5

p.M2007V

c.6019A>G

1 paper

NM_020877.5

p.R2008K

c.6023G>A

1 paper

NM_020877.5

p.K1950_I1951Splc

c.5850+1G>A

2 papers

NM_020877.5

p.D2029A

c.6086A>C

1 paper

NM_020877.5

p.P2037L

c.6110C>T

1 paper

NM_020877.5

p.R1924P

c.5771G>C

1 paper

NM_020877.5

p.R1924L

c.5771G>T

4 papers

NM_020877.5

p.R1924C

c.5770C>T