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

19 papers

NM_001376.5

p.K671E

c.2011A>G

Surrounding Variants

1 paper

NM_001376.5

p.G672delFs

c.2016delC

6 papers

NM_001376.5

p.W673C

c.2019G>C

6 papers

NM_001376.5

p.W673C

c.2019G>T

4 papers

NM_001376.5

p.V668D

c.2003T>A

6 papers

NM_001376.5

p.E666D

c.1998A>C

6 papers

NM_001376.5

p.E666D

c.1998A>T

1 paper

NM_001376.5

p.E666K

c.1996G>A

1 paper

NM_001376.5

p.Y661C

c.1982A>G

1 paper

NM_001376.5

p.K681insFs

c.2041_2042insA

1 paper

NM_001376.5

p.Q684*

c.2050C>T

1 paper

NM_001376.5

p.Q657L

c.1970A>T

1 paper

NM_001376.5

p.R656G

c.1966A>G