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

2 papers

NM_173628.4

p.T233A

c.697A>G

Surrounding Variants

1 paper

NM_173628.4

p.E227insFs

c.680dupA

1 paper

NM_173628.4

p.K239insFs

c.715dupA

1 paper

NM_173628.4

p.C240Y

c.719G>A

1 paper

NM_173628.4

p.I241F

c.721A>T

1 paper

NM_173628.4

p.L223delFs

c.667delG

1 paper

NM_173628.4

p.L223fs

c.667_668fs

1 paper

NM_173628.4

p.E243delFs

c.728delT

1 paper

NM_173628.4

p.D218delFs

c.652delC

1 paper

NM_173628.4

p.S212T

c.634T>A

2 papers

NM_173628.4

p.D206delFs

c.616delC

5 papers

NM_173628.4

p.I204M

c.612C>G

1 paper

NM_173628.4

p.S201_H202insFs

c.603_604insG