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.R3272Splc

c.9816-732T>G

Surrounding Variants

1 paper

NM_001372106.1

p.R3272Splc

c.9816-691G>A

1 paper

NM_207437.3

p.P3160L

c.9479C>T

1 paper

NM_207437.3

p.T3165R

c.9494C>G

1 paper

NM_207437.3

p.I3170M

c.9510C>G

1 paper

NM_001372106.1

p.S3326N

c.9977G>A

1 paper

NM_001372106.1

p.R3370K

c.10109G>A

1 paper

NM_207437.3

p.R3258delFs

c.9772delA

2 papers

NM_207437.3

p.R3258fs

c.9772_9773fs

1 paper

NM_001372106.1

p.K3378*

c.10132A>T

1 paper

NM_001372106.1

p.K3405E

c.10213A>G

1 paper

NM_001372106.1

p.E3420K

c.10258G>A

1 paper

NM_001372106.1

p.L3435_I3436delFs

c.10304_10307del4