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.W3685R

c.11053T>A

Surrounding Variants

1 paper

NM_001370.2

p.W3685R

c.11053T>C

1 paper

NM_001370.2

p.R3666Q

c.10997G>A

1 paper

NM_001370.2

p.R3661C

c.10981C>T

1 paper

NM_001370.2

p.N3648D

c.10942A>G

2 papers

NM_001370.2

p.R3630*

c.10888C>T

1 paper

NM_001370.2

p.D3622Splc

c.10865-1G>A

1 paper

NM_001370.2

p.E3701D

c.11103G>C

1 paper

NM_001370.2

p.E3701D

c.11103G>T

1 paper

NM_001370.2

p.K3704E

c.11110A>G

1 paper

NM_001370.2

p.R3721W

c.11161A>T

1 paper

NM_001370.2

p.E3734Q

c.11200G>C

1 paper

NM_001370.2

p.G3735E

c.11204G>A