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

4 papers

NM_001377.3

p.F2548S

c.7643T>C

Surrounding Variants

1 paper

NM_001377.3

p.H2546L

c.7637A>T

4 papers

NM_001377.3

p.V2555M

c.7663G>A

1 paper

NM_001377.3

p.V2555L

c.7663G>C

1 paper

NM_001377.3

p.V2555L

c.7663G>T

1 paper

NM_001377.3

p.R2536H

c.7607G>A

1 paper

NM_001377.3

p.R2533C

c.7597C>T

10 papers

NM_001377.3

p.R2532W

c.7594C>T

1 paper

NM_001377.3

p.A2528V

c.7583C>T

4 papers

NM_001377.3

p.I2526S

c.7577T>G

1 paper

NM_001377.3

p.E2525A

c.7574A>C

1 paper

NM_001377.3

p.D2521E

c.7563T>A

1 paper

NM_001377.3

p.D2521E

c.7563T>G