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

1–12 of 1072 variants

22 papers

NM_001377.3

p.D3015G

c.9044A>G

16 papers

NM_001377.3

p.R1423C

c.4267C>T

15 papers

NM_001377.3

p.A384V

c.1151C>T

14 papers

NM_001377.3

p.R587C

c.1759C>T

14 papers

NM_001377.3

p.R2205H

c.6614G>A

11 papers

NM_001377.3

p.E1894delFs

c.5681_5682delAA

11 papers

NM_001377.3

p.R2838*

c.8512C>T

10 papers

NM_001377.3

p.Q1537R

c.4610A>G

10 papers

NM_001377.3

p.G2461V

c.7382G>T

10 papers

NM_001377.3

p.R2532W

c.7594C>T

9 papers

NM_001377.3

p.R330C

c.988C>T

9 papers

NM_001377.3

p.R2871Q

c.8612G>A