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.I975V

c.2923A>G

Surrounding Variants

1 paper

NM_001376.5

p.E976Q

c.2926G>C

1 paper

NM_001376.5

p.E977K

c.2929G>A

1 paper

NM_001376.5

p.E977Q

c.2929G>C

19 papers

NM_001376.5

p.Y970C

c.2909A>G

1 paper

NM_001376.5

p.I969T

c.2906T>C

1 paper

NM_001376.5

p.Q967R

c.2900A>G

1 paper

NM_001376.5

p.V958delFs

c.2872delG

1 paper

NM_001376.5

p.K956_N957Splc

c.2869-3C>T

1 paper

NM_001376.5

p.Y1004D

c.3010T>G

1 paper

NM_001376.5

p.K956_N957Splc

c.2869-34A>T

1 paper

NM_001376.5

p.Y1010H

c.3028T>C

1 paper

NM_001376.5

p.Y1010C

c.3029A>G