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

1–12 of 622 variants

7 papers

NM_001370.2

p.E818D

c.2454A>T

7 papers

NM_001370.2

p.R2569H

c.7706G>A

5 papers

NM_001370.2

p.E818D

c.2454A>C

5 papers

NM_001370.2

p.S941insFs

c.2823dupT

5 papers

NM_001370.2

p.D2194E

c.6582C>A

5 papers

NM_001370.2

p.R3342H

c.10025G>A

5 papers

NM_001370.2

p.G3753D

c.11258G>A

4 papers

NM_001370.2

p.V141M

c.421G>A

4 papers

NM_001370.2

p.D2062delFs

c.6184delG

4 papers

NM_001370.2

p.D2194E

c.6582C>G

4 papers

NM_001370.2

p.R2219C

c.6655C>T

4 papers

NM_001370.2

p.S3146G

c.9436A>G