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

5 papers

NM_173628.4

p.I1293_E1294del2

c.3877_3881del6

Surrounding Variants

2 papers

NM_173628.4

p.E1294K

c.3880G>A

1 paper

NM_173628.4

p.I1293delFs

c.3877delT

1 paper

NM_173628.4

p.K1297N

c.3891G>T

1 paper

NM_173628.4

p.K1297N

c.3891G>C

1 paper

NM_173628.4

p.D1303H

c.3907G>C

1 paper

NM_173628.4

p.E1307K

c.3919G>A

1 paper

NM_173628.4

p.I1311V

c.3931A>G

1 paper

NM_173628.4

p.K1314R

c.3941A>G

1 paper

NM_173628.4

p.A1332V

c.3995C>T

1 paper

NM_173628.4

p.V1343M

c.4027G>A

1 paper

NM_173628.4

p.R1348C

c.4042C>T

2 papers

NM_173628.4

p.R1348H

c.4043G>A