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.V3858A

c.11573T>C

Surrounding Variants

1 paper

NM_001370.2

p.E3856K

c.11566G>A

3 papers

NM_001370.2

p.N3854S

c.11561A>G

1 paper

NM_001370.2

p.S3853G

c.11557A>G

1 paper

NM_001370.2

p.V3869V

c.11607T>G

1 paper

NM_001370.2

p.E3871A

c.11612A>C

1 paper

NM_001370.2

p.E3871Splc

c.11612-42A>G

1 paper

NM_001370.2

p.E3871A

c.11612A>C

2 papers

NM_001370.2

p.R3890H

c.11669G>A

1 paper

NM_001370.2

p.V3897I

c.11689G>A

1 paper

NM_001370.2

p.A3924P

c.11770G>C

1 paper

NM_001370.2

p.L3941I

c.11821C>A

1 paper

NM_001370.2

p.N3942D

c.11824A>G