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.E2348_V2349Splc

c.7045-54C>T

Surrounding Variants

1 paper

NM_001372106.1

p.R2362*

c.7084C>T

1 paper

NM_207437.3

p.R2218H

c.6653G>A

1 paper

NM_207437.3

p.R2218C

c.6652C>T

1 paper

NM_001372106.1

p.S2321_M2323delFs

c.6962_6968del7

2 papers

NM_001372106.1

p.A2420insFs

c.7260dupA

1 paper

NM_001372106.1

p.E2421fs

c.7261_7262fs

1 paper

NM_001372106.1

p.L2432P

c.7295T>C

1 paper

NM_001372106.1

p.L2453H

c.7358T>A

1 paper

NM_001372106.1

p.D2481D

c.7443C>T

2 papers

NM_001372106.1

p.P2538insFs

c.7614dupC

1 paper

NM_001372106.1

p.E2539fs

c.7615_7616fs

2 papers

NM_001372106.1

p.E2539fs

c.7615_7616fs

NM_207437.3

p.E2421fs

c.7261_7262fs