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.F1486fs

c.4456_4457fs

Surrounding Variants

1 paper

NM_001377.3

p.F1486L

c.4456T>C

2 papers

NM_001377.3

p.F1486delFs

c.4458delT

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.G1481V

c.4442G>T

1 paper

NM_001377.3

p.L1479S

c.4436T>C

1 paper

NM_001377.3

p.N1494fs

c.4480_4481fs

2 papers

NM_001377.3

p.N1495_V1496delFs

c.4484_4488del5

2 papers

NM_001377.3

p.I1473T

c.4418T>C

1 paper

NM_001377.3

p.A1459D

c.4376C>A

1 paper

NM_001377.3

p.S1452S

c.4356T>C

8 papers

NM_001377.3

p.Q1451*

c.4351C>T