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.G3752R

c.11254G>C

Surrounding Variants

1 paper

NM_001370.2

p.G3753C

c.11257G>T

5 papers

NM_001370.2

p.G3753D

c.11258G>A

1 paper

NM_001370.2

p.V3755F

c.11263G>T

1 paper

NM_001370.2

p.C3763G

c.11287T>G

1 paper

NM_001370.2

p.C3763*

c.11289C>A

1 paper

NM_001370.2

p.P3774T

c.11320C>A

1 paper

NM_001370.2

p.N3823H

c.11467A>C

2 papers

NM_001370.2

p.Y3744C

c.11231A>G

1 paper

NM_001370.2

p.D3740N

c.11218G>A

1 paper

NM_001370.2

p.G3735E

c.11204G>A

1 paper

NM_001370.2

p.E3734Q

c.11200G>C

1 paper

NM_001370.2

p.R3721W

c.11161A>T