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.S2666F

c.7997C>T

Surrounding Variants

3 papers

NM_001370.2

p.S2666Y

c.7997C>A

1 paper

NM_001370.2

p.Y2667C

c.8000A>G

1 paper

NM_001370.2

p.T2662T

c.7986G>A

1 paper

NM_001370.2

p.M2677insFs

c.8030_8031insA

1 paper

NM_001370.2

p.Y2653H

c.7957T>C

1 paper

NM_001370.2

p.E2680K

c.8038G>A

1 paper

NM_001370.2

p.R2651C

c.7951C>T

1 paper

NM_001370.2

p.Q2684*

c.8050C>T

1 paper

NM_001370.2

p.V2645A

c.7934T>C

1 paper

NM_001370.2

p.C2638S

c.7913G>C

1 paper

NM_001370.2

p.C2638S

c.7912T>A

1 paper

NM_001370.2

p.P2635L

c.7904C>T