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

2 papers

NM_001376.5

p.F316S

c.947T>C

Surrounding Variants

1 paper

NM_001376.5

p.S315N

c.944G>A

1 paper

NM_001376.5

p.V314I

c.940G>A

2 papers

NM_001376.5

p.G321Splc

c.961+1G>A

1 paper

NM_001376.5

p.H311Y

c.931C>T

11 papers

NM_001376.5

p.R309H

c.926G>A

8 papers

NM_001376.5

p.R309C

c.925C>T

1 paper

NM_001376.5

p.G307V

c.920G>T

42 papers

NM_001376.5

p.H306R

c.917A>G

3 papers

NM_001376.5

p.K305N

c.915A>C

3 papers

NM_001376.5

p.K305N

c.915A>T

1 paper

NM_001376.5

p.K305T

c.914A>C

1 paper

NM_001376.5

p.K305del1

c.913_914delAAA