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.I1460V

c.4378A>G

Surrounding Variants

1 paper

NM_001347886.2

p.S1446Y

c.4337C>A

1 paper

NM_001347886.2

p.S1544L

c.4631C>T

1 paper

NM_001347886.2

p.Y1553S

c.4658A>C

1 paper

NM_001347886.2

p.G1556S

c.4666G>A

2 papers

NM_017539.2

p.A1613S

c.4837G>T

NM_001347886.2

p.A1567S

c.4699G>T

1 paper

NM_001347886.2

p.L1570_E1576del0

c.4709_4726del18

1 paper

NM_001347886.2

p.L1570_E1576del7

c.4708_4727del21

2 papers

NM_001347886.2

p.S1608F

c.4823C>T

3 papers

NM_001347886.2

p.G1613*

c.4837G>T

1 paper

NM_017539.2

p.K1680insFs

c.5039_5040insT

1 paper

NM_001347886.2

p.G1424V

c.4271G>T

1 paper

NM_001347886.2

p.D1411N

c.4231G>A