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

6 papers

NM_001376.5

p.M3392V

c.10174A>G

Surrounding Variants

2 papers

NM_001376.5

p.M3392T

c.10175T>C

2 papers

NM_001376.5

p.P3391L

c.10172C>T

1 paper

NM_001376.5

p.C3389S

c.10166G>C

1 paper

NM_001376.5

p.C3389S

c.10165T>A

1 paper

NM_001376.5

p.L3387P

c.10160T>C

2 papers

NM_001376.5

p.S3386C

c.10157C>G

17 papers

NM_001376.5

p.R3384Q

c.10151G>A

1 paper

NM_001376.5

p.R3384P

c.10151G>C

1 paper

NM_001376.5

p.D3404E

c.10212C>A

1 paper

NM_001376.5

p.D3404E

c.10212C>G

6 papers

NM_001376.5

p.M3405L

c.10213A>C

6 papers

NM_001376.5

p.M3405L

c.10213A>T