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.P1027S

c.3079C>T

Surrounding Variants

1 paper

NM_001376.5

p.A1022_L1023delFs

c.3066_3069del4

1 paper

NM_001376.5

p.N1021D

c.3061A>G

1 paper

NM_001376.5

p.Y1019C

c.3056A>G

1 paper

NM_001376.5

p.F1018insFs

c.3053dupT

1 paper

NM_001376.5

p.T1013S

c.3037A>T

1 paper

NM_001376.5

p.L1012F

c.3036G>C

1 paper

NM_001376.5

p.L1012F

c.3036G>T

3 papers

NM_001376.5

p.G1042A

c.3125G>C

1 paper

NM_001376.5

p.Y1010C

c.3029A>G

1 paper

NM_001376.5

p.Y1010H

c.3028T>C

1 paper

NM_001376.5

p.K1052_V1053Splc

c.3156+1G>A

1 paper

NM_001376.5

p.W1054S

c.3161G>C