Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.E1022K

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.E1022K
c.3064G>A
Surrounding Variants
1 paper
NM_001372106.1
p.H1013Y
c.3037C>T
1 paper
NM_001372106.1
p.I1032F
c.3094A>T
2 papers
NM_001372106.1
p.L995L
c.2983C>T
2 papers
NM_001372106.1
p.L956delFs
c.2868delG
NM_207437.3
p.L838delFs
c.2514delG
1 paper
NM_001372106.1
p.R937Q
c.2810G>A
1 paper
NM_001372106.1
p.H934Y
c.2800C>T
1 paper
NM_001372106.1
p.E1069_E1070insAC
c.3205_3209ins6
1 paper
NM_001372106.1
p.D1079N
c.3235G>A
1 paper
NM_001372106.1
p.Q1095E
c.3283C>G
1 paper
NM_001372106.1
p.K1106delFs
c.3317delA
1 paper
NM_001372106.1
p.I1124F
c.3370A>T
1 paper
NM_001372106.1
p.C1136Y
c.3407G>A
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