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

10 papers

NM_001377.3

p.Q1537R

c.4610A>G

Surrounding Variants

1 paper

NM_001377.3

p.Q1526*

c.4576C>T

1 paper

NM_001377.3

p.R1523G

c.4567C>G

3 papers

NM_001377.3

p.C1518Y

c.4553G>A

1 paper

NM_001377.3

p.C1518R

c.4552T>C

1 paper

NM_001377.3

p.K1516K

c.4548G>A

1 paper

NM_001377.3

p.A1504V

c.4511C>T

1 paper

NM_001377.3

p.T1498_D1502del5

c.4492_4505del15

2 papers

NM_001377.3

p.N1495_V1496delFs

c.4484_4488del5

1 paper

NM_001377.3

p.N1494fs

c.4480_4481fs

1 paper

NM_001377.3

p.F1486L

c.4458T>A

1 paper

NM_001377.3

p.F1486L

c.4458T>G

1 paper

NM_001377.3

p.F1486L

c.4456T>C