Varaico: Literature-Extracted Genetic Variants

DYNC1H1

1,071 papers

RefSeq Summary

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in int...

Pfam Domains

DHC_N1aa 242–832UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1319–1720UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1868–2231UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2423–2550UCSCDynein heavy chain AAA lid domain

AAA_7aa 2557–2739UCSCP-loop containing dynein motor region

DYN_lidaa 2751–2843UCSCDynein heavy chain, ATPase lid domain

Gene Aliases

HGNC Name

dynein cytoplasmic 1 heavy chain 1

HGNC Previous Symbols

DNECL; DNCL; DNCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001376.5

p.G3897Splc

c.11691-4G>T

Surrounding Variants

1 paper

NM_001376.5

p.D3902N

c.11704G>A

1 paper

NM_001376.5

p.P3922L

c.11765C>T

1 paper

NM_001376.5

p.V3936M

c.11806G>A

1 paper

NM_001376.5

p.V3936L

c.11806G>C

1 paper

NM_001376.5

p.V3936L

c.11806G>T

1 paper

NM_001376.5

p.P3942S

c.11824C>T

1 paper

NM_001376.5

p.K3945M

c.11834A>T

1 paper

NM_001376.5

p.A3949_K3950insG

c.11845_11849ins3

1 paper

NM_001376.5

p.V3951A

c.11852T>C

2 papers

NM_001376.5

p.A3953V

c.11858C>T

1 paper

NM_001376.5

p.Q3956*

c.11866C>T

1 paper

NM_001376.5

p.F3957S

c.11870T>C