Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.L3837L

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
3 papers
NM_001372106.1
p.L3837L
c.11509C>T
Surrounding Variants
1 paper
NM_001372106.1
p.M3849T
c.11546T>C
1 paper
NM_001372106.1
p.G3836Splc
c.11507-55A>G
1 paper
NM_001372106.1
p.G3836Splc
c.11507-66A>G
1 paper
NM_001372106.1
p.Q3862_E3863del1
c.11585_11587delAAG
1 paper
NM_001372106.1
p.P3910H
c.11729C>A
1 paper
NM_001372106.1
p.E3914D
c.11742G>C
1 paper
NM_001372106.1
p.E3914D
c.11742G>T
1 paper
NM_001372106.1
p.E3922_W3923Splc
c.11767-27A>C
1 paper
NM_001372106.1
p.V3934F
c.11800G>T
3 papers
NM_001372106.1
p.G3972E
c.11915G>A
NM_207437.3
p.G3854E
c.11561G>A
1 paper
NM_001372106.1
p.V3976A
c.11927T>C
1 paper
NM_001372106.1
p.P3995P
c.11985C>T
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