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.R699W

c.2095C>T

Surrounding Variants

1 paper

NM_001372106.1

p.H702Y

c.2104C>T

1 paper

NM_001372106.1

p.H702H

c.2106T>C

1 paper

NM_207437.3

p.R576*

c.1726C>T

1 paper

NM_001372106.1

p.W692C

c.2076G>C

1 paper

NM_001372106.1

p.W692C

c.2076G>T

1 paper

NM_207437.3

p.R588P

c.1763G>C

1 paper

NM_001372106.1

p.A687insFs

c.2061dupA

1 paper

NM_001372106.1

p.E712*

c.2134G>T

1 paper

NM_001372106.1

p.K723T

c.2168A>C

1 paper

NM_001372106.1

p.T762_K763delFs

c.2286_2287delCA

1 paper

NM_001372106.1

p.M631I

c.1893G>A

1 paper

NM_001372106.1

p.M631I

c.1893G>C