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

3 papers

NM_001370.2

p.R136Q

c.407G>A

Surrounding Variants

1 paper

NM_001370.2

p.Q133_I134Splc

c.400-2A>T

4 papers

NM_001370.2

p.V141M

c.421G>A

1 paper

NM_001370.2

p.S143_S145del3

c.427_434del9

1 paper

NM_001370.2

p.H151R

c.452A>G

1 paper

NM_001370.2

p.K156E

c.466A>G

1 paper

NM_001370.2

p.E177K

c.529G>A

1 paper

NM_001370.2

p.E177*

c.529G>T

1 paper

NM_001370.2

p.P186H

c.557C>A

1 paper

NM_001370.2

p.I192K

c.575T>A

1 paper

NM_001370.2

p.R194H

c.581G>A

1 paper

NM_001370.2

p.R194L

c.581G>T

1 paper

NM_001370.2

p.E195K

c.583G>A