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

10 papers

NM_001377.3

p.G2461V

c.7382G>T

Surrounding Variants

3 papers

NM_001377.3

p.A2470G

c.7409C>G

1 paper

NM_001377.3

p.Q2479_V2480Splc

c.7437+1G>C

2 papers

NM_001377.3

p.Q2479_V2480Splc

c.7437+3A>G

3 papers

NM_001377.3

p.I2430T

c.7289T>C

5 papers

NM_001377.3

p.R2426L

c.7277G>T

4 papers

NM_001377.3

p.R2426C

c.7276C>T

3 papers

NM_001377.3

p.S2423Y

c.7268C>A

1 paper

NM_001377.3

p.R2411I

c.7232G>T

1 paper

NM_001377.3

p.S2407L

c.7220C>T

1 paper

NM_001377.3

p.G2386*

c.7156G>T

3 papers

NM_001377.3

p.T2383M

c.7148C>T

2 papers

NM_001377.3

p.V2381V

c.7143A>G