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.I816I

c.2448C>T

Surrounding Variants

1 paper

NM_001376.5

p.E818D

c.2454A>T

2 papers

NM_001376.5

p.V823L

c.2467G>C

2 papers

NM_001376.5

p.V823L

c.2467G>T

1 paper

NM_001376.5

p.W824*

c.2471G>A

1 paper

NM_001376.5

p.W824*

c.2472G>A

5 papers

NM_001376.5

p.G807S

c.2419G>A

1 paper

NM_001376.5

p.Q834*

c.2500C>T

1 paper

NM_001376.5

p.R798Q

c.2393G>A

1 paper

NM_001376.5

p.E797K

c.2389G>A

1 paper

NM_001376.5

p.A837A

c.2511A>G

1 paper

NM_001376.5

p.E838_F841del4

c.2512_2522del12

1 paper

NM_001376.5

p.K846_V847Splc

c.2538+1G>A