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.G3749R

c.11245G>C

Surrounding Variants

1 paper

NM_020877.5

p.G3749R

c.11245G>A

1 paper

NM_020877.5

p.T3739T

c.11217A>G

2 papers

NM_020877.5

p.R3759C

c.11275C>T

1 paper

NM_020877.5

p.P3770L

c.11309C>T

1 paper

NM_020877.5

p.P3770P

c.11310G>T

1 paper

NM_020877.5

p.V3792I

c.11374G>A

2 papers

NM_020877.5

p.R3796H

c.11387G>A

1 paper

NM_020877.5

p.R3799R

c.11397C>T

1 paper

NM_020877.5

p.V3800M

c.11398G>A

1 paper

NM_020877.5

p.S3826_V3827Splc

c.11478+3C>G

4 papers

NM_020877.5

p.R3834*

c.11500C>T

5 papers

NM_020877.5

p.S3835P

c.11503T>C