Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.L1423F

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.L1423F
c.4267C>T
Surrounding Variants
1 paper
NM_001372106.1
p.L1493P
c.4478T>C
1 paper
NM_207437.3
p.A1389V
c.4166C>T
1 paper
NM_001372106.1
p.G1381R
c.4141G>C
2 papers
NM_001372106.1
p.D1363N
c.4087G>A
1 paper
NM_001372106.1
p.Q1353H
c.4059G>C
1 paper
NM_001372106.1
p.Q1353H
c.4059G>T
1 paper
NM_001372106.1
p.K1518E
c.4552A>G
1 paper
NM_001372106.1
p.M1527delFs
c.4579delA
1 paper
NM_001372106.1
p.D1557D
c.4671C>T
1 paper
NM_001372106.1
p.Q1563L
c.4688A>T
1 paper
NM_001372106.1
p.I1565I
c.4695C>T
1 paper
NM_001372106.1
p.H1579Q
c.4737C>A
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