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.E556delFs

c.1667_1668delAG

Surrounding Variants

1 paper

NM_001377.3

p.C554Splc

c.1662-3T>C

1 paper

NM_001377.3

p.S559T

c.1676G>C

1 paper

NM_001377.3

p.R578G

c.1732C>G

1 paper

NM_001377.3

p.I581S

c.1742T>G

14 papers

NM_001377.3

p.R587C

c.1759C>T

1 paper

NM_001377.3

p.R587H

c.1760G>A

2 papers

NM_001377.3

p.L592F

c.1774C>T

1 paper

NM_001377.3

p.Q601H

c.1803G>C

1 paper

NM_001377.3

p.Q601H

c.1803G>T

1 paper

NM_001377.3

p.Q608*

c.1822C>T

1 paper

NM_001377.3

p.K612K

c.1836G>A

1 paper

NM_001377.3

p.Q613_Q619del7

c.1837_1856del21