Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.S4385N

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.S4385N
c.13154G>A
Surrounding Variants
1 paper
NM_001372106.1
p.L4395F
c.13183C>T
2 papers
NM_001372106.1
p.G4398R
c.13192G>A
NM_207437.3
p.G4280R
c.12838G>A
2 papers
NM_001372106.1
p.G4398R
c.13192G>C
NM_207437.3
p.G4280R
c.12838G>C
2 papers
NM_001372106.1
p.T4349I
c.13046C>T
NM_207437.3
p.T4231I
c.12692C>T
1 paper
NM_001372106.1
p.V4338M
c.13012G>A
2 papers
NM_001372106.1
p.D4316H
c.12946G>C
1 paper
NM_001372106.1
p.I4264T
c.12791T>C
1 paper
NM_001372106.1
p.Q4458*
c.13372C>T
1 paper
NM_207437.3
p.W4348C
c.13044G>C
1 paper
NM_207437.3
p.W4348C
c.13044G>T
1 paper
NM_001372106.1
p.V4486_N4487insFs
c.13458_13459insT
1 paper
NM_001372106.1
p.E4204_V4205Splc
c.12612+59G>A
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