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.Q2020H

c.6060G>T

Surrounding Variants

1 paper

NM_001372106.1

p.I2022T

c.6065T>C

1 paper

NM_207437.3

p.V1896M

c.5686G>A

2 papers

NM_001372106.1

p.R2006Q

c.6017G>A

NM_207437.3

p.R1888Q

c.5663G>A

1 paper

NM_001372106.1

p.A1997V

c.5990C>T

1 paper

NM_001372106.1

p.Q2034_F2035Splc

c.6102+90C>T

1 paper

NM_001372106.1

p.R1983_A1984Splc

c.5949+60A>G

1 paper

NM_001372106.1

p.M1942I

c.5826G>A

1 paper

NM_001372106.1

p.Q2038E

c.6112C>G

1 paper

NM_001372106.1

p.E2039D

c.6117G>C

1 paper

NM_001372106.1

p.I2040V

c.6118A>G

1 paper

NM_001372106.1

p.R2059C

c.6175C>T

1 paper

NM_001372106.1

p.L2069L

c.6205C>T