Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.E66D

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.E66D
c.198G>C
Surrounding Variants
1 paper
NM_001372106.1
p.E66D
c.198G>T
1 paper
NM_001372106.1
p.P64P
c.192G>A
1 paper
NM_001372106.1
p.I71F
c.211A>T
1 paper
NM_001372106.1
p.T61T
c.183T>G
1 paper
NM_001372106.1
p.T61S
c.182C>G
1 paper
NM_001372106.1
p.S48delFs
c.144delC
1 paper
NM_001372106.1
p.S48_E49del1
c.143_145delGCG
1 paper
NM_001372106.1
p.A47A
c.141G>A
1 paper
NM_001372106.1
p.H42L
c.125A>T
1 paper
NM_001372106.1
p.G36V
c.107G>T
1 paper
NM_001372106.1
p.G34V
c.101G>T
1 paper
NM_001372106.1
p.G34R
c.100G>C
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