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.K390N

c.1170G>C

Surrounding Variants

1 paper

NM_001377.3

p.K390N

c.1170G>T

1 paper

NM_001377.3

p.P394_E396delFs

c.1180_1186del7

2 papers

NM_001377.3

p.A395V

c.1184C>T

1 paper

NM_001377.3

p.E396delFs

c.1186delG

15 papers

NM_001377.3

p.A384V

c.1151C>T

1 paper

NM_001377.3

p.A383T

c.1147G>A

1 paper

NM_001377.3

p.K382I

c.1145A>T

1 paper

NM_001377.3

p.A400V

c.1199C>T

1 paper

NM_001377.3

p.Q411*

c.1231C>T

1 paper

NM_001377.3

p.S413T

c.1238G>C

1 paper

NM_001377.3

p.Q415*

c.1243C>T

1 paper

NM_001377.3

p.E378V

c.1133A>T