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

7 papers

NM_001377.3

p.E436*

c.1306G>T

Surrounding Variants

1 paper

NM_001377.3

p.L437V

c.1309T>G

3 papers

NM_001377.3

p.R430H

c.1289G>A

7 papers

NM_001377.3

p.R430C

c.1288C>T

1 paper

NM_001377.3

p.V428G

c.1283T>G

1 paper

NM_001377.3

p.L445insFs

c.1335dupG

1 paper

NM_001377.3

p.K425fs

c.1273_1274fs

1 paper

NM_001377.3

p.K425delFs

c.1274_1275delAA

1 paper

NM_001377.3

p.L422P

c.1265T>C

2 papers

NM_001377.3

p.F421L

c.1263C>A

1 paper

NM_001377.3

p.F421L

c.1263C>G

1 paper

NM_001377.3

p.F421L

c.1261T>C

1 paper

NM_001377.3

p.Q415*

c.1243C>T