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.D2062fs

c.6184_6185fs

Surrounding Variants

2 papers

NM_001370.2

p.D2062fs

c.6184_6185fs

4 papers

NM_001370.2

p.D2062delFs

c.6184delG

1 paper

NM_001370.2

p.R2061Q

c.6182G>A

1 paper

NM_001370.2

p.R2052*

c.6154C>T

1 paper

NM_001370.2

p.R2077C

c.6229C>T

1 paper

NM_001370.2

p.T2044S

c.6131C>G

1 paper

NM_001370.2

p.T2044S

c.6130A>T

1 paper

NM_001370.2

p.S2091F

c.6272C>T

1 paper

NM_001370.2

p.N2031S

c.6092A>G

1 paper

NM_001370.2

p.T2098T

c.6294T>A

2 papers

NM_001370.2

p.Y2119C

c.6356A>G

1 paper

NM_001370.2

p.V2122V

c.6366T>G