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.L2595L

c.7785T>C

Surrounding Variants

1 paper

NM_001370.2

p.F2592F

c.7776T>C

1 paper

NM_001370.2

p.R2588*

c.7762C>T

1 paper

NM_001370.2

p.S2587F

c.7760C>T

7 papers

NM_001370.2

p.R2569H

c.7706G>A

1 paper

NM_001370.2

p.Y2563*

c.7689C>A

1 paper

NM_001370.2

p.Y2563*

c.7689C>G

1 paper

NM_001370.2

p.F2561_Q2562del2

c.7681_7685del6

2 papers

NM_001370.2

p.V2560L

c.7678G>C

2 papers

NM_001370.2

p.V2560L

c.7678G>T

1 paper

NM_001370.2

p.E2629K

c.7885G>A

1 paper

NM_001370.2

p.K2633fs

c.7897_7898fs

1 paper

NM_001370.2

p.K2633delFs

c.7899delG