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.K956_N957Splc

c.2868+1G>A

Surrounding Variants

1 paper

NM_001376.5

p.E952Q

c.2854G>C

1 paper

NM_001376.5

p.G951R

c.2851G>A

1 paper

NM_001376.5

p.G951R

c.2851G>C

1 paper

NM_001376.5

p.G950S

c.2848G>A

1 paper

NM_001376.5

p.H947_K948insG

c.2839_2843ins3

1 paper

NM_001376.5

p.Q944*

c.2830C>T

1 paper

NM_001376.5

p.D941insFs

c.2823dupT

2 papers

NM_001376.5

p.D941H

c.2821G>C

1 paper

NM_001376.5

p.M938_D941insFs

c.2814_2821dup8

1 paper

NM_001376.5

p.V936A

c.2807T>C

3 papers

NM_001376.5

p.A930G

c.2789C>G

1 paper

NM_001376.5

p.A930delFs

c.2789delC