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

1 paper

NM_001376.5

p.Q198del1

c.592_593delCAA

Surrounding Variants

2 papers

NM_001376.5

p.Q198K

c.592C>A

1 paper

NM_001376.5

p.Q197E

c.589C>G

1 paper

NM_001376.5

p.Q198_E204del7

c.592_611del21

2 papers

NM_001376.5

p.L196S

c.587T>C

2 papers

NM_001376.5

p.L196W

c.587T>G

1 paper

NM_001376.5

p.Q197_Q198del1

c.591_593delGCA

1 paper

NM_001376.5

p.N199T

c.596A>C

2 papers

NM_001376.5

p.N199S

c.596A>G

1 paper

NM_001376.5

p.N199N

c.597T>C

1 paper

NM_001376.5

p.E201G

c.602A>G

1 paper

NM_001376.5

p.E201_I202insFs

c.603_604insG

3 papers

NM_001376.5

p.L193insFs

c.579dupC