Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.A3560S

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.A3560S
c.10678G>T
Surrounding Variants
1 paper
NM_001372106.1
p.R3574_V3575Splc
c.10722+4T>C
1 paper
NM_207437.3
p.P3392A
c.10174C>G
1 paper
NM_001372106.1
p.D3489N
c.10465G>A
1 paper
NM_001372106.1
p.E3458D
c.10374G>C
1 paper
NM_001372106.1
p.E3458D
c.10374G>T
2 papers
NM_207437.3
p.D3464E
c.10392C>A
NM_001372106.1
p.D3582E
c.10746C>A
2 papers
NM_207437.3
p.D3464E
c.10392C>G
NM_001372106.1
p.D3582E
c.10746C>G
1 paper
NM_001372106.1
p.N3612N
c.10836C>T
1 paper
NM_001372106.1
p.V3620V
c.10860C>T
1 paper
NM_001372106.1
p.D3631N
c.10891G>A
1 paper
NM_001372106.1
p.L3435_I3436delFs
c.10304_10307del4
1 paper
NM_001372106.1
p.E3420K
c.10258G>A
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