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.E1420Q

c.4258G>C

Surrounding Variants

1 paper

NM_001377.3

p.E1420_E1421Splc

c.4260+1G>A

6 papers

NM_001377.3

p.K1413R

c.4238A>G

1 paper

NM_001377.3

p.Q1407H

c.4221G>C

1 paper

NM_001377.3

p.Q1407H

c.4221G>T

1 paper

NM_001377.3

p.Q1407delFs

c.4220delA

1 paper

NM_001377.3

p.D1406H

c.4216G>C

1 paper

NM_001377.3

p.V1388_T1390ins1

c.4162_4170dup9

3 papers

NM_001377.3

p.E1420_E1421Splc

c.4261-2A>G

16 papers

NM_001377.3

p.R1423C

c.4267C>T

1 paper

NM_001377.3

p.I1382T

c.4145T>C

3 papers

NM_001377.3

p.M1379V

c.4135A>G

1 paper

NM_001377.3

p.S1377*

c.4130C>A