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_207437.3

p.R2793H

c.8378G>A

Surrounding Variants

1 paper

NM_001372106.1

p.A2934V

c.8801C>T

1 paper

NM_001372106.1

p.Q2878_E2879Splc

c.8634+71C>T

1 paper

NM_001372106.1

p.A2873T

c.8617G>A

1 paper

NM_001372106.1

p.A2872A

c.8616G>A

1 paper

NM_001372106.1

p.E2833V

c.8498A>T

1 paper

NM_001372106.1

p.L2822_V2823Splc

c.8467-50G>C

1 paper

NM_207437.3

p.R2673*

c.8017C>T

1 paper

NM_001372106.1

p.K2767M

c.8300A>T

1 paper

NM_207437.3

p.T2632M

c.7895C>T

2 papers

NM_001372106.1

p.G2950D

c.8849G>A

1 paper

NM_001372106.1

p.E2990E

c.8970G>A

1 paper

NM_001372106.1

p.H2731H

c.8193C>T