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.N3230fs

c.9688_9689fs

Surrounding Variants

2 papers

NM_001370.2

p.T3227N

c.9680C>A

1 paper

NM_001370.2

p.R3224K

c.9671G>A

2 papers

NM_001370.2

p.E3236K

c.9706G>A

1 paper

NM_001370.2

p.Q3217K

c.9649C>A

1 paper

NM_001370.2

p.G3248A

c.9743G>C

3 papers

NM_001370.2

p.R3292C

c.9874C>T

1 paper

NM_001370.2

p.S3299C

c.9896C>G

1 paper

NM_001370.2

p.I3305T

c.9914T>C

1 paper

NM_001370.2

p.Y3315C

c.9944A>G

1 paper

NM_001370.2

p.Y3317H

c.9949T>C

1 paper

NM_001370.2

p.H3177Y

c.9529C>T

1 paper

NM_001370.2

p.M3173I

c.9519G>A