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.F1247L

c.3741T>G

Surrounding Variants

1 paper

NM_001347886.2

p.F1247L

c.3741T>A

1 paper

NM_001347886.2

p.F1247L

c.3739T>C

1 paper

NM_001347886.2

p.W1200L

c.3599G>T

1 paper

NM_017539.2

p.P1197L

c.3590C>T

1 paper

NM_017539.2

p.P1197R

c.3590C>G

2 papers

NM_001347886.2

p.T1143T

c.3429A>C

1 paper

NM_001347886.2

p.E1138K

c.3412G>A

1 paper

NM_001347886.2

p.E1135E

c.3405G>A

1 paper

NM_017539.2

p.D1349N

c.4045G>A

1 paper

NM_001347886.2

p.Q1320H

c.3960A>T

1 paper

NM_001347886.2

p.Q1320H

c.3960A>C

1 paper

NM_017539.2

p.S1399F

c.4196C>T