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.W1537R

c.4609T>C

Surrounding Variants

1 paper

NM_001376.5

p.W1537R

c.4609T>A

1 paper

NM_001376.5

p.R1543Q

c.4628G>A

1 paper

NM_001376.5

p.V1545G

c.4634T>G

1 paper

NM_001376.5

p.E1548_L1560del0

c.4642_4680del39

1 paper

NM_001376.5

p.E1548K

c.4642G>A

19 papers

NM_001376.5

p.E1518K

c.4552G>A

2 papers

NM_001376.5

p.D1556E

c.4668T>A

2 papers

NM_001376.5

p.D1556E

c.4668T>G

1 paper

NM_001376.5

p.I1557T

c.4670T>C

1 paper

NM_001376.5

p.E1564K

c.4690G>A

5 papers

NM_001376.5

p.E1564V

c.4691A>T

21 papers

NM_001376.5

p.R1567Q

c.4700G>A