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.K820delFs

c.2460delT

Surrounding Variants

1 paper

NM_001347886.2

p.V821fs

c.2461_2462fs

1 paper

NM_001347886.2

p.A736P

c.2206G>C

1 paper

NM_017539.2

p.R772W

c.2314C>T

1 paper

NM_017539.2

p.M755I

c.2265G>T

1 paper

NM_017539.2

p.M755I

c.2265G>C

1 paper

NM_017539.2

p.M755I

c.2265G>A

1 paper

NM_001347886.2

p.L691L

c.2073G>A

1 paper

NM_001347886.2

p.V675F

c.2023G>T

1 paper

NM_001347886.2

p.A674A

c.2022T>C

1 paper

NM_001347886.2

p.S664S

c.1992C>A