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.D3404E

c.10212C>A

Surrounding Variants

1 paper

NM_001376.5

p.D3404E

c.10212C>G

6 papers

NM_001376.5

p.M3405L

c.10213A>C

6 papers

NM_001376.5

p.M3405L

c.10213A>T

1 paper

NM_001376.5

p.P3411L

c.10232C>T

1 paper

NM_001376.5

p.L3416_Q3427ins4

c.10247_10279dup33

1 paper

NM_001376.5

p.A3423V

c.10268C>T

1 paper

NM_001376.5

p.Q3428del1

c.10282_10283delCAG

1 paper

NM_001376.5

p.Q3427P

c.10280A>C

3 papers

NM_001376.5

p.R3438Q

c.10313G>A

2 papers

NM_001376.5

p.M3392T

c.10175T>C

6 papers

NM_001376.5

p.M3392V

c.10174A>G

2 papers

NM_001376.5

p.P3391L

c.10172C>T