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

5 papers

NM_001370.2

p.S941insFs

c.2823dupT

Surrounding Variants

3 papers

NM_001370.2

p.S941fs

c.2821_2822fs

2 papers

NM_001370.2

p.V942fs

c.2824_2825fs

1 paper

NM_001370.2

p.L946P

c.2837T>C

1 paper

NM_001370.2

p.G936fs

c.2806_2807fs

1 paper

NM_001370.2

p.K935delFs

c.2805delA

1 paper

NM_001370.2

p.E917_V918delins

c.2749_2753delinsTAACT

2 papers

NM_001370.2

p.D912V

c.2735A>T

1 paper

NM_001370.2

p.W899R

c.2695T>A

1 paper

NM_001370.2

p.W899R

c.2695T>C

1 paper

NM_001370.2

p.S883T

c.2648G>C

1 paper

NM_001370.2

p.Q866*

c.2596C>T

1 paper

NM_001370.2

p.L855H

c.2564T>A