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.D1062V

c.3185A>T

Surrounding Variants

11 papers

NM_001376.5

p.D1062G

c.3185A>G

1 paper

NM_001376.5

p.M1063I

c.3189G>A

1 paper

NM_001376.5

p.M1063I

c.3189G>C

1 paper

NM_001376.5

p.M1063I

c.3189G>T

1 paper

NM_001376.5

p.L1060S

c.3179T>C

10 papers

NM_001376.5

p.Y1057C

c.3170A>G

1 paper

NM_001376.5

p.Y1057H

c.3169T>C

1 paper

NM_001376.5

p.Y1069_N1070insAC

c.3205_3209ins6

1 paper

NM_001376.5

p.W1054S

c.3161G>C

1 paper

NM_001376.5

p.R1071insFs

c.3211_3212insGT

1 paper

NM_001376.5

p.N1077S

c.3230A>G

1 paper

NM_001376.5

p.I1086R

c.3257T>G