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.L2182F

c.6546A>C

Surrounding Variants

1 paper

NM_001370.2

p.Q2177K

c.6529C>A

1 paper

NM_001370.2

p.S2176C

c.6527C>G

1 paper

NM_001370.2

p.Y2174C

c.6521A>G

1 paper

NM_001370.2

p.G2191E

c.6572G>A

5 papers

NM_001370.2

p.D2194E

c.6582C>A

4 papers

NM_001370.2

p.D2194E

c.6582C>G

2 papers

NM_001370.2

p.M2168L

c.6502A>C

2 papers

NM_001370.2

p.M2168L

c.6502A>T

1 paper

NM_001370.2

p.D2165V

c.6494A>T

1 paper

NM_001370.2

p.D2165Y

c.6493G>T

1 paper

NM_001370.2

p.D2164V

c.6491A>T

1 paper

NM_001370.2

p.D2164Y

c.6490G>T