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.T2322T

c.6966C>A

Surrounding Variants

1 paper

NM_001377.3

p.C2318R

c.6952T>C

4 papers

NM_001377.3

p.H2317H

c.6951C>T

1 paper

NM_001377.3

p.T2315S

c.6943A>T

1 paper

NM_001377.3

p.A2314S

c.6940G>T

2 papers

NM_001377.3

p.S2306P

c.6916T>C

1 paper

NM_001377.3

p.N2341insFs

c.7021dupA

6 papers

NM_001377.3

p.A2304T

c.6910G>A

1 paper

NM_001377.3

p.R2302W

c.6904A>T

1 paper

NM_001377.3

p.R2344C

c.7030C>T

1 paper

NM_001377.3

p.R2347I

c.7040G>T

1 paper

NM_001377.3

p.C2351_E2352delFs

c.7053_7054delTG

1 paper

NM_001377.3

p.C2351*

c.7053T>A