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.R3741C

c.11221C>T

Surrounding Variants

2 papers

NM_001376.5

p.R3741H

c.11222G>A

1 paper

NM_001376.5

p.L3753M

c.11257C>A

1 paper

NM_001376.5

p.D3764N

c.11290G>A

1 paper

NM_001376.5

p.L3770P

c.11309T>C

5 papers

NM_001376.5

p.E3771K

c.11311G>A

1 paper

NM_001376.5

p.V3780G

c.11339T>G

1 paper

NM_001376.5

p.T3787_T3796del0

c.11361_11387del27

1 paper

NM_001376.5

p.M3791K

c.11372T>A

1 paper

NM_001376.5

p.E3793A

c.11378A>C

2 papers

NM_001376.5

p.R3728P

c.11183G>C

1 paper

NM_001376.5

p.A3807S

c.11419G>T

1 paper

NM_001376.5

p.E3720fs

c.11158_11159fs