Varaico: Literature-Extracted Genetic Variants

DNAH3

152 papers

RefSeq Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, interme...

Pfam Domains

DHC_N2aa 859–1264UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1391–1717UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1883–2028UCSCDynein heavy chain AAA lid domain

AAA_7aa 2035–2215UCSCP-loop containing dynein motor region

AAA_lid_1aa 2247–2346UCSCAAA+ lid domain

AAA_8aa 2404–2664UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 3

HGNC Alias Symbols

Dnahc3b; DLP3; Hsadhc3; DKFZp434N074

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001347886.2

p.L3111delins

c.9331_9332delinsAA

Surrounding Variants

1 paper

NM_001347886.2

p.L3097insFs

c.9289_9290insT

1 paper

NM_001347886.2

p.L3130S

c.9389T>C

1 paper

NM_001347886.2

p.E3086K

c.9256G>A

2 papers

NM_017539.2

p.V3189delFs

c.9565delC

2 papers

NM_017539.2

p.V3189fs

c.9565_9566fs

1 paper

NM_001347886.2

p.L3145_L3146delFs

c.9435_9436delGG

1 paper

NM_001347886.2

p.N3064S

c.9191A>G

1 paper

NM_001347886.2

p.A3164A

c.9492T>C

1 paper

NM_001347886.2

p.A3165V

c.9494C>T

1 paper

NM_001347886.2

p.L3055L

c.9165G>T

1 paper

NM_001347886.2

p.L3055L

c.9165G>C

1 paper

NM_001347886.2

p.K3051fs

c.9151_9152fs