Varaico: Literature-Extracted Genetic Variants

Gene:DNAH10
Variant:p.G281Splc

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.G281Splc
c.842-16A>G
Surrounding Variants
1 paper
NM_001372106.1
p.E282_I283ins4
c.844_848ins12
1 paper
NM_001372106.1
p.E286K
c.856G>A
1 paper
NM_001372106.1
p.E286D
c.858A>C
1 paper
NM_001372106.1
p.E286D
c.858A>T
1 paper
NM_001372106.1
p.G294R
c.880G>A
1 paper
NM_001372106.1
p.S297S
c.891T>C
1 paper
NM_001372106.1
p.E304*
c.910G>T
1 paper
NM_001372106.1
p.E304D
c.912A>C
1 paper
NM_001372106.1
p.D307Y
c.919G>T
1 paper
NM_001372106.1
p.Q319*
c.955C>T
1 paper
NM_001372106.1
p.E325V
c.974A>T
1 paper
NM_001372106.1
p.L328P
c.983T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."