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.A336V

c.1007C>T

Surrounding Variants

3 papers

NM_001377.3

p.R338G

c.1012A>G

1 paper

NM_001377.3

p.T339K

c.1016C>A

1 paper

NM_001377.3

p.I340_F344Fs

c.1018_1030delinsTTAGAAAAFs

3 papers

NM_001377.3

p.H341Y

c.1021C>T

1 paper

NM_001377.3

p.H341R

c.1022A>G

1 paper

NM_001377.3

p.F344Y

c.1031T>A

1 paper

NM_001377.3

p.L345P

c.1034T>C

1 paper

NM_001377.3

p.Y346C

c.1037A>G

1 paper

NM_001377.3

p.E353*

c.1057G>T

2 papers

NM_001377.3

p.R360*

c.1078C>T

1 paper

NM_001377.3

p.P370_Y373del4

c.1108_1118del12

1 paper

NM_001377.3

p.Y373C

c.1118A>G