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

7 papers

NM_173628.4

p.R350*

c.1048C>T

Surrounding Variants

1 paper

NM_173628.4

p.F352F

c.1056C>T

1 paper

NM_173628.4

p.P355L

c.1064C>T

1 paper

NM_173628.4

p.E357insFs

c.1069_1070insAC

2 papers

NM_173628.4

p.K360*

c.1078A>T

2 papers

NM_173628.4

p.L359insFs

c.1076_1077dupTG

1 paper

NM_173628.4

p.G364G

c.1092T>G

1 paper

NM_173628.4

p.E367K

c.1099G>A

1 paper

NM_173628.4

p.V369V

c.1107C>G

1 paper

NM_173628.4

p.L370L

c.1108C>T

1 paper

NM_173628.4

p.L375fs

c.1123_1124fs

1 paper

NM_173628.4

p.N378_V379del2

c.1132_1136del6

1 paper

NM_173628.4

p.E382K

c.1144G>A