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

3 papers

NM_001377.3

p.E2211V

c.6632A>T

Surrounding Variants

1 paper

NM_001377.3

p.T2209A

c.6625A>G

14 papers

NM_001377.3

p.R2205H

c.6614G>A

2 papers

NM_001377.3

p.R2205C

c.6613C>T

1 paper

NM_001377.3

p.L2200V

c.6598C>G

1 paper

NM_001377.3

p.G2198del1

c.6592_6593delGGA

3 papers

NM_001377.3

p.G2197_G2198del1

c.6591_6593delTGG

1 paper

NM_001377.3

p.L2192F

c.6574C>T

1 paper

NM_001377.3

p.F2188L

c.6562T>C

1 paper

NM_001377.3

p.H2185Y

c.6553C>T

4 papers

NM_001377.3

p.D2184V

c.6551A>T

2 papers

NM_001377.3

p.C2182Y

c.6545G>A

2 papers

NM_001377.3

p.N2160K

c.6480T>A