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

5 papers

NM_001370.2

p.E818D

c.2454A>C

Surrounding Variants

7 papers

NM_001370.2

p.E818D

c.2454A>T

1 paper

NM_001370.2

p.E814*

c.2440G>T

1 paper

NM_001370.2

p.E813D

c.2439A>C

1 paper

NM_001370.2

p.E813D

c.2439A>T

1 paper

NM_001370.2

p.Q803Q

c.2409A>G

2 papers

NM_001370.2

p.Q803K

c.2407C>A

1 paper

NM_001370.2

p.I790T

c.2369T>C

1 paper

NM_001370.2

p.R787Q

c.2360G>A

2 papers

NM_001370.2

p.R787W

c.2359C>T

1 paper

NM_001370.2

p.I783V

c.2347A>G

1 paper

NM_001370.2

p.E762_Q763delFs

c.2286_2287delAC

1 paper

NM_001370.2

p.E762Q

c.2284G>C