Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.C2677insFs

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.C2677insFs
c.8030_8031insA
Surrounding Variants
2 papers
NM_001372106.1
p.T2652M
c.7955C>T
NM_207437.3
p.T2534M
c.7601C>T
1 paper
NM_001372106.1
p.I2704V
c.8110A>G
1 paper
NM_001372106.1
p.L2728L
c.8182C>T
1 paper
NM_001372106.1
p.H2731H
c.8193C>T
1 paper
NM_001372106.1
p.D2640H
c.7918G>C
1 paper
NM_001372106.1
p.N2601S
c.7802A>G
1 paper
NM_207437.3
p.T2632M
c.7895C>T
1 paper
NM_001372106.1
p.K2767M
c.8300A>T
1 paper
NM_207437.3
p.R2673*
c.8017C>T
1 paper
NM_001372106.1
p.Q2567*
c.7699C>T
1 paper
NM_001372106.1
p.K2566delFs
c.7698delG
1 paper
NM_001372106.1
p.K2566fs
c.7696_7697fs
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