Varaico: Literature-Extracted Genetic Variants

DNAH6

317 papers

RefSeq Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, interme...

Pfam Domains

DHC_N2aa 879–1299UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1434–1760UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1928–2052UCSCDynein heavy chain AAA lid domain

AAA_7aa 2057–2238UCSCP-loop containing dynein motor region

AAA_lid_1aa 2269–2367UCSCAAA+ lid domain

AAA_8aa 2417–2677UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 6

HGNC Previous Symbol

DNHL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001370.2

p.E195K

c.583G>A

Surrounding Variants

1 paper

NM_001370.2

p.E195delFs

c.585delA

1 paper

NM_001370.2

p.R194H

c.581G>A

1 paper

NM_001370.2

p.R194L

c.581G>T

1 paper

NM_001370.2

p.E197K

c.589G>A

1 paper

NM_001370.2

p.I192K

c.575T>A

1 paper

NM_001370.2

p.F201_L202insFs

c.603_604insG

1 paper

NM_001370.2

p.L202H

c.605T>A

1 paper

NM_001370.2

p.P186H

c.557C>A

1 paper

NM_001370.2

p.M204I

c.612G>A

1 paper

NM_001370.2

p.M204I

c.612G>C

1 paper

NM_001370.2

p.M204I

c.612G>T

1 paper

NM_001370.2

p.P206delFs

c.616delC