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.R1943P

c.5828G>C

Surrounding Variants

1 paper

NM_001376.5

p.G1955V

c.5864G>T

1 paper

NM_001376.5

p.D1958N

c.5872G>A

1 paper

NM_001376.5

p.N1961T

c.5882A>C

32 papers

NM_001376.5

p.R1962C

c.5884C>T

4 papers

NM_001376.5

p.R1962H

c.5885G>A

1 paper

NM_001376.5

p.R1962L

c.5885G>T

1 paper

NM_001376.5

p.L1963P

c.5888T>C

1 paper

NM_001376.5

p.R1966G

c.5896C>G

1 paper

NM_001376.5

p.Q1939_A1940Splc

c.5818-65G>A

1 paper

NM_001376.5

p.N1987_N1989insFs

c.5959_5965dup7

1 paper

NM_001376.5

p.D1991N

c.5971G>A

1 paper

NM_001376.5

p.D1991E

c.5973C>A