Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_001372106.1

p.S228P

c.682T>C

Surrounding Variants

1 paper

NM_001372106.1

p.T227insFs

c.680dupC

1 paper

NM_001372106.1

p.S239insFs

c.715dupT

2 papers

NM_001372106.1

p.D240N

c.718G>A

1 paper

NM_001372106.1

p.P245fs

c.733_734fs

1 paper

NM_001372106.1

p.P245S

c.733C>T

1 paper

NM_001372106.1

p.F209I

c.625T>A

3 papers

NM_001372106.1

p.R258W

c.772C>T

NM_207437.3

p.R197W

c.589C>T

1 paper

NM_001372106.1

p.D259N

c.775G>A

1 paper

NM_001372106.1

p.L262I

c.784T>A

1 paper

NM_207437.3

p.K206delFs

c.616delA

1 paper

NM_001372106.1

p.G281Splc

c.842-16A>G

1 paper

NM_001372106.1

p.E282_I283ins4

c.844_848ins12