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.S2286L

c.6857C>T

Surrounding Variants

1 paper

NM_173628.4

p.S2286_E2287del2

c.6856_6860del6

1 paper

NM_173628.4

p.D2304V

c.6911A>T

1 paper

NM_173628.4

p.D2304E

c.6912C>A

1 paper

NM_173628.4

p.P2315_V2316insTC

c.6943_6947ins6

1 paper

NM_173628.4

p.V2321_Q2323delFs

c.6962_6968del7

1 paper

NM_173628.4

p.I2325I

c.6975T>C

1 paper

NM_173628.4

p.Q2367_L2368Splc

c.7102-41T>C

1 paper

NM_173628.4

p.R2372*

c.7114C>T

1 paper

NM_173628.4

p.F2375L

c.7123T>C

1 paper

NM_173628.4

p.F2375L

c.7125C>G

1 paper

NM_173628.4

p.F2375L

c.7125C>A

3 papers

NM_173628.4

p.W2379S

c.7136G>C