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.A2961V

c.8882C>T

Surrounding Variants

2 papers

NM_001377.3

p.A2961T

c.8881G>A

1 paper

NM_001377.3

p.R2959G

c.8875A>G

1 paper

NM_001377.3

p.R2955G

c.8863A>G

1 paper

NM_001377.3

p.D2975Y

c.8923G>T

1 paper

NM_001377.3

p.Q2944_D2945Splc

c.8833-1G>A

1 paper

NM_001377.3

p.Q2944_D2945Splc

c.8833-3T>C

1 paper

NM_001377.3

p.Q2982_P2983Splc

c.8946+1G>A

2 papers

NM_001377.3

p.V2985G

c.8954T>G

1 paper

NM_001377.3

p.E2998K

c.8992G>A

9 papers

NM_001377.3

p.R3004C

c.9010C>T

1 paper

NM_001377.3

p.R3007C

c.9019C>T

1 paper

NM_001377.3

p.R3014I

c.9041G>T