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_017539.2

p.F2325L

c.6975C>A

Surrounding Variants

1 paper

NM_017539.2

p.F2325L

c.6975C>G

1 paper

NM_017539.2

p.F2325L

c.6973T>C

1 paper

NM_001347886.2

p.K2296E

c.6886A>G

1 paper

NM_001347886.2

p.Q2248_D2249Splc

c.6744+1G>A

1 paper

NM_001347886.2

p.P2220A

c.6658C>G

1 paper

NM_001347886.2

p.V2182I

c.6544G>A

1 paper

NM_001347886.2

p.S2179delins

c.6535_6536delinsAC

1 paper

NM_001347886.2

p.T2175N

c.6524C>A

1 paper

NM_001347886.2

p.C2374F

c.7121G>T

1 paper

NM_001347886.2

p.R2375H

c.7124G>A

1 paper

NM_001347886.2

p.L2385V

c.7153C>G

1 paper

NM_001347886.2

p.E2408D

c.7224G>T