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

2 papers

NM_001370.2

p.V3376D

c.10127T>A

Surrounding Variants

1 paper

NM_001370.2

p.V3376V

c.10128T>C

1 paper

NM_001370.2

p.E3377Q

c.10129G>C

3 papers

NM_001370.2

p.M3379T

c.10136T>C

1 paper

NM_001370.2

p.R3395*

c.10183C>T

1 paper

NM_001370.2

p.G3396D

c.10187G>A

5 papers

NM_001370.2

p.R3342H

c.10025G>A

1 paper

NM_001370.2

p.Q3340L

c.10019A>T

1 paper

NM_001370.2

p.L3339L

c.10017A>G

1 paper

NM_001370.2

p.Y3317H

c.9949T>C

1 paper

NM_001370.2

p.Y3315C

c.9944A>G

1 paper

NM_001370.2

p.I3305T

c.9914T>C

1 paper

NM_001370.2

p.S3299C

c.9896C>G