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

1 paper

NM_001372106.1

p.Q2210_V2211Splc

c.6631-77G>A

Surrounding Variants

1 paper

NM_001372106.1

p.R2224H

c.6671G>A

1 paper

NM_001372106.1

p.A2194S

c.6580G>T

1 paper

NM_207437.3

p.Y2070C

c.6209A>G

NM_001372106.1

p.Y2188C

c.6563A>G

1 paper

NM_001372106.1

p.P2184S

c.6550C>T

1 paper

NM_207437.3

p.N2040D

c.6118A>G

NM_001372106.1

p.N2158D

c.6472A>G

1 paper

NM_001372106.1

p.A2153T

c.6457G>A

1 paper

NM_001372106.1

p.L2286_S2287del2

c.6856_6860del6

1 paper

NM_207437.3

p.P2178R

c.6533C>G

1 paper

NM_207437.3

p.K2182*

c.6544A>T

1 paper

NM_001372106.1

p.S2321_M2323delFs

c.6962_6968del7

1 paper

NM_207437.3

p.R2218C

c.6652C>T

1 paper

NM_207437.3

p.R2218H

c.6653G>A