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.R2438G

c.7312C>G

Surrounding Variants

1 paper

NM_173628.4

p.N2456N

c.7368C>T

2 papers

NM_173628.4

p.T2474T

c.7422G>C

1 paper

NM_173628.4

p.T2488M

c.7463C>T

1 paper

NM_173628.4

p.T2489S

c.7465A>T

1 paper

NM_173628.4

p.T2489S

c.7466C>G

1 paper

NM_173628.4

p.Q2425_A2426Splc

c.7275+45A>G

1 paper

NM_173628.4

p.G2495Splc

c.7483+24T>C

1 paper

NM_173628.4

p.D2421Fs

c.7262delinsGTFs

1 paper

NM_173628.4

p.P2420_D2421insT

c.7258_7262ins3

1 paper

NM_173628.4

p.P2414L

c.7241C>T

1 paper

NM_173628.4

p.Y2398*

c.7194C>G

1 paper

NM_173628.4

p.Y2398*

c.7194C>A