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

1–12 of 1234 variants

42 papers

NM_001376.5

p.H306R

c.917A>G

32 papers

NM_001376.5

p.R1962C

c.5884C>T

28 papers

NM_001376.5

p.R598C

c.1792C>T

22 papers

NM_001376.5

p.H3822P

c.11465A>C

21 papers

NM_001376.5

p.R1567Q

c.4700G>A

19 papers

NM_001376.5

p.T214A

c.640A>G

19 papers

NM_001376.5

p.K671E

c.2011A>G

19 papers

NM_001376.5

p.Y970C

c.2909A>G

19 papers

NM_001376.5

p.E1518K

c.4552G>A

18 papers

NM_001376.5

p.I584L

c.1750A>C

18 papers

NM_001376.5

p.R3344Q

c.10031G>A

17 papers

NM_001376.5

p.R3384Q

c.10151G>A