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

4 papers

NM_173628.4

p.M1130I

c.3390G>C

Surrounding Variants

5 papers

NM_173628.4

p.M1130I

c.3390G>T

4 papers

NM_173628.4

p.M1130I

c.3390G>A

1 paper

NM_173628.4

p.R1135R

c.3405G>A

1 paper

NM_173628.4

p.V1123G

c.3368T>G

2 papers

NM_173628.4

p.D1140Y

c.3418G>T

1 paper

NM_173628.4

p.D1118insFs

c.3352dupG

1 paper

NM_173628.4

p.D1118fs

c.3352_3353fs

1 paper

NM_173628.4

p.D1140_F1143del4

c.3418_3428del12

1 paper

NM_173628.4

p.P1145L

c.3434C>T

1 paper

NM_173628.4

p.L1110S

c.3329T>C

1 paper

NM_173628.4

p.K1154Q

c.3460A>C

1 paper

NM_173628.4

p.A1106delFs

c.3317delG