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.D1363N

c.4087G>A

Surrounding Variants

1 paper

NM_001372106.1

p.Q1353H

c.4059G>C

1 paper

NM_001372106.1

p.Q1353H

c.4059G>T

1 paper

NM_001372106.1

p.G1381R

c.4141G>C

1 paper

NM_001372106.1

p.D1329E

c.3987T>A

1 paper

NM_001372106.1

p.R1302*

c.3904C>T

1 paper

NM_207437.3

p.L1172F

c.3514C>T

1 paper

NM_001372106.1

p.V1269I

c.3805G>A

1 paper

NM_001372106.1

p.L1423F

c.4267C>T

1 paper

NM_001372106.1

p.Q1248_E1249delFs

c.3744_3745delGG

1 paper

NM_001372106.1

p.F1225_V1226insT

c.3673_3677ins3

1 paper

NM_001372106.1

p.P1217S

c.3649C>T

1 paper

NM_001372106.1

p.N1212S

c.3635A>G