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.E718V

c.2153A>T

Surrounding Variants

5 papers

NM_173628.4

p.L717P

c.2150T>C

1 paper

NM_173628.4

p.L719P

c.2156T>C

1 paper

NM_173628.4

p.F713I

c.2137T>A

1 paper

NM_173628.4

p.K712N

c.2136G>T

1 paper

NM_173628.4

p.N707K

c.2121C>G

1 paper

NM_173628.4

p.N707K

c.2121C>A

1 paper

NM_173628.4

p.E706K

c.2116G>A

1 paper

NM_173628.4

p.S702C

c.2104A>T

1 paper

NM_173628.4

p.D698delFs

c.2092delC

1 paper

NM_173628.4

p.E726_I727Splc

c.2178+43T>C

1 paper

NM_173628.4

p.K694_E695delFs

c.2081_2084del4

1 paper

NM_173628.4

p.K694fs

c.2080_2081fs