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

1 paper

NM_173628.4

p.G4258R

c.12772G>A

Surrounding Variants

1 paper

NM_173628.4

p.G4258R

c.12772G>C

1 paper

NM_173628.4

p.E4267K

c.12799G>A

1 paper

NM_173628.4

p.D4268E

c.12804T>G

1 paper

NM_173628.4

p.D4268E

c.12804T>A

1 paper

NM_173628.4

p.S4270S

c.12810C>A

1 paper

NM_173628.4

p.D4276E

c.12828C>A

1 paper

NM_173628.4

p.W4282*

c.12845G>A

1 paper

NM_173628.4

p.W4282*

c.12846G>A

1 paper

NM_173628.4

p.R4285Q

c.12854G>A

3 papers

NM_173628.4

p.S4289del1

c.12865_12866delGGA

2 papers

NM_173628.4

p.R4305_E4306Splc

c.12915+1G>A

1 paper

NM_173628.4

p.K4257_G4258Splc

c.12771+4A>G