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.F592L

c.1774T>C

Surrounding Variants

1 paper

NM_001376.5

p.F592delFs

c.1774_1775delTT

1 paper

NM_001376.5

p.F592L

c.1776T>A

1 paper

NM_001376.5

p.F592L

c.1776T>G

1 paper

NM_001376.5

p.L591_V593del3

c.1771_1778del9

1 paper

NM_001376.5

p.H596Y

c.1786C>T

28 papers

NM_001376.5

p.R598C

c.1792C>T

1 paper

NM_001376.5

p.S586P

c.1756T>C

2 papers

NM_001376.5

p.R598H

c.1793G>A

8 papers

NM_001376.5

p.R598L

c.1793G>T

2 papers

NM_001376.5

p.G599R

c.1795G>A

2 papers

NM_001376.5

p.G599R

c.1795G>C

18 papers

NM_001376.5

p.I584L

c.1750A>C