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.G2830R

c.8488G>C

Surrounding Variants

1 paper

NM_001377.3

p.G2830R

c.8488G>A

1 paper

NM_001377.3

p.F2824L

c.8472C>A

1 paper

NM_001377.3

p.F2824L

c.8472C>G

1 paper

NM_001377.3

p.F2824L

c.8470T>C

11 papers

NM_001377.3

p.R2838*

c.8512C>T

6 papers

NM_001377.3

p.I2819M

c.8457A>G

1 paper

NM_001377.3

p.K2842K

c.8526G>A

4 papers

NM_001377.3

p.N2845delFs

c.8534delA

2 papers

NM_001377.3

p.N2845fs

c.8533_8534fs

1 paper

NM_001377.3

p.V2847Splc

c.8540-2A>T

1 paper

NM_001377.3

p.E2860E

c.8580A>G

1 paper

NM_001377.3

p.C2862Y

c.8585G>A