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.F1503L

c.4507T>C

Surrounding Variants

1 paper

NM_173628.4

p.E1500E

c.4500G>A

1 paper

NM_173628.4

p.T1495I

c.4484C>T

5 papers

NM_173628.4

p.T1511A

c.4531A>G

1 paper

NM_173628.4

p.R1494Q

c.4481G>A

1 paper

NM_173628.4

p.Q1493R

c.4478A>G

2 papers

NM_173628.4

p.W1489*

c.4467G>A

2 papers

NM_173628.4

p.W1489*

c.4466G>A

1 paper

NM_173628.4

p.D1521H

c.4561G>C

1 paper

NM_173628.4

p.D1522Y

c.4564G>T

4 papers

NM_173628.4

p.A1482V

c.4445C>T

1 paper

NM_173628.4

p.N1524K

c.4572C>G

1 paper

NM_173628.4

p.N1524K

c.4572C>A