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.A1734E

c.5201C>A

Surrounding Variants

1 paper

NM_001347886.2

p.E1720*

c.5158G>T

2 papers

NM_001347886.2

p.A1752V

c.5255C>T

1 paper

NM_001347886.2

p.D1715H

c.5143G>C

4 papers

NM_001347886.2

p.D1715N

c.5143G>A

1 paper

NM_001347886.2

p.W1754*

c.5261G>A

1 paper

NM_001347886.2

p.W1754*

c.5262G>A

1 paper

NM_001347886.2

p.V1761L

c.5281G>C

1 paper

NM_001347886.2

p.T1706M

c.5117C>T

1 paper

NM_017539.2

p.G1715S

c.5143G>A

2 papers

NM_001347886.2

p.Q1777*

c.5329C>T

1 paper

NM_001347886.2

p.A1789T

c.5365G>A

1 paper

NM_017539.2

p.K1680insFs

c.5039_5040insT