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.K235delFs

c.703delA

Surrounding Variants

1 paper

NM_001376.5

p.K235fs

c.703_704fs

1 paper

NM_001376.5

p.D234G

c.701A>G

2 papers

NM_001376.5

p.D234Y

c.700G>T

1 paper

NM_001376.5

p.V236I

c.706G>A

1 paper

NM_001376.5

p.P239insFs

c.715dupC

1 paper

NM_001376.5

p.P239S

c.715C>T

1 paper

NM_001376.5

p.P239L

c.716C>T

1 paper

NM_001376.5

p.F241delFs

c.723delT

1 paper

NM_001376.5

p.P227insFs

c.680dupC

1 paper

NM_001376.5

p.N243I

c.728A>T

3 papers

NM_001376.5

p.E225D

c.675A>T

2 papers

NM_001376.5

p.E225V

c.674A>T