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.G572R

c.1714G>C

Surrounding Variants

1 paper

NM_001372106.1

p.P576S

c.1726C>T

1 paper

NM_207437.3

p.F521delFs

c.1561delT

1 paper

NM_001372106.1

p.P560L

c.1679C>T

1 paper

NM_207437.3

p.Q530*

c.1588C>T

1 paper

NM_001372106.1

p.F592delFs

c.1774_1775delTT

1 paper

NM_001372106.1

p.M597I

c.1791G>A

1 paper

NM_001372106.1

p.E599K

c.1795G>A

1 paper

NM_001372106.1

p.I541V

c.1621A>G

1 paper

NM_001372106.1

p.E603_V604insG

c.1807_1811ins3

1 paper

NM_001372106.1

p.L605V

c.1813C>G

1 paper

NM_001372106.1

p.C532_Q533ins1

c.1596_1597insACC

3 papers

NM_001372106.1

p.K495E

c.1483A>G

NM_207437.3

p.K434E

c.1300A>G