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.R3923H

c.11768G>A

Surrounding Variants

1 paper

NM_020877.5

p.F3934I

c.11800T>A

1 paper

NM_020877.5

p.P3935R

c.11804C>G

1 paper

NM_020877.5

p.I3936delins

c.11807_11808delinsAG

1 paper

NM_020877.5

p.L3939*

c.11816T>A

1 paper

NM_020877.5

p.C3896G

c.11686T>G

1 paper

NM_020877.5

p.R3879W

c.11635C>T

1 paper

NM_020877.5

p.R3863C

c.11587C>T

5 papers

NM_020877.5

p.S3835P

c.11503T>C

4 papers

NM_020877.5

p.R3834*

c.11500C>T

1 paper

NM_020877.5

p.S3826_V3827Splc

c.11478+3C>G

1 paper

NM_020877.5

p.V3800M

c.11398G>A

1 paper

NM_020877.5

p.R3799R

c.11397C>T