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

1–12 of 783 variants

7 papers

NM_173628.4

p.R350*

c.1048C>T

7 papers

NM_173628.4

p.S2286L

c.6857C>T

6 papers

NM_173628.4

p.R1604C

c.4810C>T

6 papers

NM_173628.4

p.C1803Y

c.5408G>A

6 papers

NM_173628.4

p.R4432C

c.13294C>T

5 papers

NM_173628.4

p.I204M

c.612C>G

5 papers

NM_173628.4

p.Y431_K432delFs

c.1293_1294delTA

5 papers

NM_173628.4

p.L717P

c.2150T>C

5 papers

NM_173628.4

p.M1130I

c.3390G>T

5 papers

NM_173628.4

p.I1293_E1294del2

c.3877_3881del6

5 papers

NM_173628.4

p.T1511A

c.4531A>G

5 papers

NM_173628.4

p.C1829Y

c.5486G>A