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.E1855insFs

c.5563_5564insA

Surrounding Variants

1 paper

NM_173628.4

p.G1852S

c.5554G>A

1 paper

NM_173628.4

p.K1858M

c.5573A>T

1 paper

NM_173628.4

p.G1847D

c.5540G>A

1 paper

NM_173628.4

p.P1845P

c.5535T>C

1 paper

NM_173628.4

p.Q1835*

c.5503C>T

1 paper

NM_173628.4

p.T1832A

c.5494A>G

5 papers

NM_173628.4

p.C1829Y

c.5486G>A

1 paper

NM_173628.4

p.K1880_S1881Splc

c.5640+26G>C

1 paper

NM_173628.4

p.R1828Splc

c.5484-34G>A

1 paper

NM_173628.4

p.K1880_S1881Splc

c.5640+37T>G

1 paper

NM_173628.4

p.I1822F

c.5464A>T

6 papers

NM_173628.4

p.C1803Y

c.5408G>A