Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.R1931Q

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.R1931Q
c.5792G>A
Surrounding Variants
2 papers
NM_001372106.1
p.S1888N
c.5663G>A
1 paper
NM_001372106.1
p.E1887K
c.5659G>A
1 paper
NM_001372106.1
p.R1882Q
c.5645G>A
1 paper
NM_001372106.1
p.E1880*
c.5638G>T
1 paper
NM_001372106.1
p.A1866A
c.5598C>T
1 paper
NM_001372106.1
p.K1855insFs
c.5563_5564insA
1 paper
NM_001372106.1
p.G1830G
c.5490C>T
1 paper
NM_001372106.1
p.M1942I
c.5826G>A
1 paper
NM_001372106.1
p.R1983_A1984Splc
c.5949+60A>G
1 paper
NM_001372106.1
p.A1997V
c.5990C>T
2 papers
NM_001372106.1
p.R2006Q
c.6017G>A
NM_207437.3
p.R1888Q
c.5663G>A
1 paper
NM_207437.3
p.V1896M
c.5686G>A
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