Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.A395A

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.A395A
c.1185C>G
Surrounding Variants
1 paper
NM_001372106.1
p.A395T
c.1183G>A
1 paper
NM_001372106.1
p.F409insFs
c.1225_1226insT
1 paper
NM_001372106.1
p.V378_A379del2
c.1132_1136del6
1 paper
NM_001372106.1
p.K359*
c.1075A>T
1 paper
NM_001372106.1
p.T358S
c.1072A>T
1 paper
NM_001372106.1
p.Q357insFs
c.1069_1070insAC
1 paper
NM_001372106.1
p.N348I
c.1043A>T
1 paper
NM_001372106.1
p.E342D
c.1026A>C
1 paper
NM_001372106.1
p.E342D
c.1026A>T
1 paper
NM_001372106.1
p.K335T
c.1004A>C
1 paper
NM_001372106.1
p.K335I
c.1004A>T
1 paper
NM_001372106.1
p.K335_G336del2
c.1003_1007del6
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