Varaico: Literature-Extracted Genetic Variants

DNAH17

296 papers

RefSeq Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 ...

Pfam Domains

DHC_N1aa 190–767UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1269–1675UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1809–2135UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2291–2411UCSCDynein heavy chain AAA lid domain

AAA_7aa 2416–2595UCSCP-loop containing dynein motor region

AAA_lid_1aa 2628–2727UCSCAAA+ lid domain

Gene Aliases

HGNC Name

dynein axonemal heavy chain 17

HGNC Previous Symbol

DNAHL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_173628.4

p.R4432C

c.13294C>T

Surrounding Variants

1 paper

NM_173628.4

p.R4432H

c.13295G>A

1 paper

NM_173628.4

p.I4431V

c.13291A>G

1 paper

NM_173628.4

p.I4452M

c.13356C>G

4 papers

NM_173628.4

p.P4401L

c.13202C>T

1 paper

NM_173628.4

p.K4397delFs

c.13191delT

1 paper

NM_173628.4

p.E4398fs

c.13192_13193fs

4 papers

NM_173628.4

p.R4395W

c.13183C>T

1 paper

NM_173628.4

p.Q4387E

c.13159C>G

1 paper

NM_173628.4

p.Y4375Y

c.13125C>T

5 papers

NM_173628.4

p.R4369*

c.13105C>T

1 paper

NM_173628.4

p.P4368L

c.13103C>T

1 paper

NM_173628.4

p.S4353_V4354delFs

c.13059_13062del4