Varaico: Literature-Extracted Genetic Variants

DYNC2H1

463 papers

RefSeq Summary

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembl...

Pfam Domains

DHC_N1aa 188–674UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1117–1518UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1651–1986UCSCHydrolytic ATP binding site of dynein motor region

DYNC2H1_AAA_domaa 2121–2216UCSCCytoplasmic dynein 2 heavy chain 1, AAA+ ATPase domain

AAA_7aa 2262–2433UCSCP-loop containing dynein motor region

DYN_lidaa 2445–2545UCSCDynein heavy chain, ATPase lid domain

Gene Aliases

HGNC Name

dynein cytoplasmic 2 heavy chain 1

HGNC Previous Symbol

DNCH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377.3

p.K1909*

c.5725A>T

Surrounding Variants

5 papers

NM_001377.3

p.T1906T

c.5718C>A

1 paper

NM_001377.3

p.R1917W

c.5749C>T

1 paper

NM_001377.3

p.R1917Q

c.5750G>A

1 paper

NM_001377.3

p.V1899I

c.5695G>A

1 paper

NM_001377.3

p.A1920T

c.5758G>A

1 paper

NM_001377.3

p.I1897T

c.5690T>C

1 paper

NM_001377.3

p.H1896P

c.5687A>C

1 paper

NM_001377.3

p.H1896fs

c.5686_5687fs

3 papers

NM_001377.3

p.H1896fs

c.5686_5687fs

1 paper

NM_001377.3

p.E1894D

c.5682A>C

1 paper

NM_001377.3

p.E1894D

c.5682A>T

1 paper

NM_001377.3

p.E1894fs

c.5680_5681fs