Varaico: Literature-Extracted Genetic Variants

DNAH10

142 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 245–544UCSCDynein heavy chain, N-terminal region 1

DHC_N1aa 306–876UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1372–1777UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1912–2238UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2395–2529UCSCDynein heavy chain AAA lid domain

AAA_7aa 2534–2715UCSCP-loop containing dynein motor region

Gene Aliases

HGNC Name

dynein axonemal heavy chain 10

HGNC Alias Symbol

FLJ43808

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001372106.1

p.H42L

c.125A>T

Surrounding Variants

1 paper

NM_001372106.1

p.A47A

c.141G>A

1 paper

NM_001372106.1

p.S48_E49del1

c.143_145delGCG

1 paper

NM_001372106.1

p.G36V

c.107G>T

1 paper

NM_001372106.1

p.S48delFs

c.144delC

1 paper

NM_001372106.1

p.G34V

c.101G>T

1 paper

NM_001372106.1

p.G34R

c.100G>C

1 paper

NM_001372106.1

p.D32A

c.95A>C

1 paper

NM_001372106.1

p.D32G

c.95A>G

1 paper

NM_001372106.1

p.D32V

c.95A>T

1 paper

NM_001372106.1

p.D32N

c.94G>A

1 paper

NM_001372106.1

p.D32H

c.94G>C

1 paper

NM_001372106.1

p.D32Y

c.94G>T