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.D1738E

c.5214C>A

Surrounding Variants

1 paper

NM_020877.5

p.D1738E

c.5214C>G

2 papers

NM_020877.5

p.K1749_D1750Splc

c.5247+3G>A

1 paper

NM_020877.5

p.H1718Y

c.5152C>T

1 paper

NM_020877.5

p.E1716*

c.5146G>T

1 paper

NM_020877.5

p.K1703N

c.5109G>C

1 paper

NM_020877.5

p.K1703N

c.5109G>T

1 paper

NM_020877.5

p.R1698delFs

c.5092delA

1 paper

NM_020877.5

p.K1692E

c.5074A>G

4 papers

NM_020877.5

p.V1755V

c.5265C>G

1 paper

NM_020877.5

p.G1774_R1775del2

c.5320_5324del6

1 paper

NM_020877.5

p.R1775W

c.5323C>T

1 paper

NM_020877.5

p.L1776L

c.5328C>T